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Gene: Cdk4 MGI:88357

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Gene Summary

Name:
cyclin dependent kinase 4
Synonyms:
p34PSK-J3/cdk4,  Crk3

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Cdk4tm1b(NCOM)Mfgc HOM Early adult 0.00
edema Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
abnormal embryo size Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
microphthalmia Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
abnormal cranium morphology Cdk4tm1b(NCOM)Mfgc HET   Early adult 2.69×10-05
preweaning lethality, incomplete penetrance Cdk4tm1b(NCOM)Mfgc HOM   Early adult 0.00
increased mean corpuscular volume Cdk4tm1b(NCOM)Mfgc HET Early adult 2.34×10-05
male infertility Cdk4tm1b(NCOM)Mfgc HOM Early adult 0.00
decreased body length Cdk4tm1b(NCOM)Mfgc HET Early adult 3.33×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

44 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Histopathology

Images

12 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cdk4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cdk4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Familial Melanoma
Neoplasm of the pancreas ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609048

The table below shows human diseases predicted to be associated to Cdk4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Atax... ORPHA:453533
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Gait ataxia, Decrease... OMIM:619761
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Lipedema
Edema OMIM:614103
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature ORPHA:3000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Richards-Rundle Syndrome
Gait disturbance, Ketonuria, Hypergonadotropic hypogonadism, Ataxia ORPHA:1399
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility, Hepatic... OMIM:615703
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Adrenal hypoplas... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Neonatal hypoglycemia, Renal salt wa... ORPHA:289548
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia,... OMIM:615986
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Re... ORPHA:263455
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia OMIM:222100
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Increased serum serotonin, Abnormal repetitive mannerisms, Infle... OMIM:608049
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... ORPHA:347
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... ORPHA:213
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... OMIM:137920
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Hypoesthesia, Obesity, Primary amen... OMIM:619737
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... ORPHA:91351
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis OMIM:615994
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D... ORPHA:361
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Ataxia, Premature thelarche, Oral-pharyngeal dysphagia, Gait ataxia, Gai... OMIM:616878
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, P... ORPHA:3157
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality o... ORPHA:99885
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubu... ORPHA:562
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... ORPHA:243
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Failure to thrive... ORPHA:2088
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe failure to th... OMIM:246200
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Jaundice, Nephro... OMIM:613404
Wolfram Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysuria, Abnormal mesentery morpho... ORPHA:3463
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... ORPHA:143
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Ataxia, Anorexia, Weight loss, Agitation, Oral aversion, H... ORPHA:134
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Gombo Syndrome
Microphthalmia OMIM:233270
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Central Diabetes Insipidus
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Intrahepatic cholestasis, Hypercalciuria... OMIM:227810
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level,... OMIM:210200
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... ORPHA:99880
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Ketonuria, Impulsivity ORPHA:35706
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
East Syndrome
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... ORPHA:199343
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Choreoathetosis, Failure to thrive OMIM:231670
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... ORPHA:769
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Renal steatosis, Increased hepatic echogenicity, Fasting h... OMIM:261680
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy... OMIM:143880
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... ORPHA:2795
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Renal tubular dysfunction, Aminoaciduria, R... ORPHA:436271
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Whipple Disease
Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Erectile dysfunction,... ORPHA:3452
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Weight loss, Neoplasm of the live... ORPHA:2126
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Anorexia, Jaundice,... ORPHA:20
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H... ORPHA:110
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Hepatomegaly, Ketonuria, 3-Methylglutaconic aciduria, Difficulty walking, Myoglobi... OMIM:251900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, ... OMIM:220110
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Partington Syndrome
Macroorchidism ORPHA:94083
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... OMIM:314300
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... ORPHA:79237
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... ORPHA:1227
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia, Compensated hypothyroidism ORPHA:480864
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosi... ORPHA:525731
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... OMIM:615751
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Small for gestational age, Anorexia, Abnorm... ORPHA:330015
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Ataxia, Retroperitoneal fibrosis, We... ORPHA:35687
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Athetosis, Hyperaldosteronism, ... ORPHA:369929
Invasive Mole
Menometrorrhagia ORPHA:99925
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Neonatal death OMIM:619167
Glucose/Galactose Malabsorption
Failure to thrive, Abnormal oral glucose tolerance, Glycosuria OMIM:606824
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Hyperaldosteron... OMIM:612780
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ketonuria, Ataxia, Paresthesia, Glycosuria, Hyperglycemia, Acut... ORPHA:466677
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Nanophthalmos
Microphthalmia ORPHA:35612
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Ren... ORPHA:85450
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Loss of ... OMIM:620089
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Failure to thrive OMIM:618362
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Nanophthalmos 4
Microphthalmia OMIM:615972
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Premature ovarian insufficiency, Diabetes mellitus, Failur... ORPHA:79474
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Gitelman Syndrome
Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Increased circu... OMIM:263800
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul... ORPHA:320
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Methylmalonic aciduria OMIM:251120
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia... ORPHA:2849
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Failure to thrive, Self-mutilation OMIM:604317
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Failure to thrive OMIM:210210
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... ORPHA:84081
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... ORPHA:223
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Splen... OMIM:277900
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... OMIM:616963
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... OMIM:239500
Cataract 47
Glycosuria OMIM:612018
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Aminoaciduria, Ketonuria, Large for gestational age OMIM:614520
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Dysphagia, Abnormal thymus morphology,... ORPHA:589
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Failure to thrive OMIM:125800
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... OMIM:613845
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Amino... OMIM:230400
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Gait ataxia, Abdominal obesity, ... OMIM:300354
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Ataxia, Hemolytic-uremic syndrome, ... ORPHA:79282
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia OMIM:619053
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Obesity And Hypopigmentation
Overgrowth, Hepatic steatosis, Obesity OMIM:620195
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Ataxia, Microvesicular hepatic s... OMIM:220111
Summitt Syndrome
Obesity OMIM:272350
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testostero... ORPHA:247768
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... ORPHA:95496
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... ORPHA:228402
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Ketonuria, Methylmalonic aciduria OMIM:251110
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Dysphagia, Polydipsia, Abn... ORPHA:537
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria, Diabetes mellitus, Ataxia OMIM:249270
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst,... OMIM:269880
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Hydroureter, Ataxia, Diabetes insipidus, Hypothyroidism, D... OMIM:222300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Ataxia, Mesangial hypercellularity, Crypt... OMIM:617575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Morm Syndrome
Hyperactivity, Abnormality of the kidney, Aggressive behavior, Truncal obesity, Micropenis ORPHA:75858
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Primary amenorrhea, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypog... OMIM:616033
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia OMIM:215470
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality of the... ORPHA:3063
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Distal sensory impairment OMIM:604484
Lujan-Fryns Syndrome
Macroorchidism, Disproportionate tall stature ORPHA:776
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal cor... OMIM:243910
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Chorea, Polyphagia, Weight los... ORPHA:399
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, S... OMIM:227650
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Anorexia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency... OMIM:619386
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar... ORPHA:485350
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... OMIM:241200
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ... OMIM:151660
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, Failure to thrive, Exocrin... OMIM:616539
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... ORPHA:300373
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Renal salt wasting, I... OMIM:601678
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Increased ci... ORPHA:43
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Jaundice, Chronic kidney disease, Dysphagia, H... ORPHA:447
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Myotonic Dystrophy 2
Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulati... OMIM:602668
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal... OMIM:276880
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Gray Platelet Syndrome
Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Ataxia,... ORPHA:209905
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia,... OMIM:229600
Stimmler Syndrome
Aminoaciduria, Ataxia, Type II diabetes mellitus ORPHA:3199
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Small for gestation... OMIM:600901
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... ORPHA:180229
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Im... ORPHA:293987
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Small for gestation... OMIM:227646
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin res... OMIM:209900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Decreased fertility, Obesity, Hypogonadism... ORPHA:2234
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Lymphatic Malformation 2
Lymphedema OMIM:611944
Mmep Syndrome
Microphthalmia ORPHA:3434
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Micropenis ORPHA:85282
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin resistanc... ORPHA:79083
Fragile X Syndrome
Macroorchidism ORPHA:908
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Addictive alcohol use, Hyperglycemia ORPHA:90065
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Central hypot... OMIM:616113
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia... OMIM:614813
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Cirrhosis, Amenorrhea OMIM:604250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Alstrom Syndrome
Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic hypogonadism,... OMIM:203800
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Lacticaciduria, Tip-toe gait, Compulsive behaviors,... ORPHA:3008
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Hypospadias, Large for gestational age, Cryptorchidism, Gait disturbance, Neonatal... ORPHA:457485
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Abnormality of ... ORPHA:543
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Mic... OMIM:617516
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Failure to thrive, Biliary atresia, ... OMIM:600001
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Impaired distal proprioception, ... OMIM:157640
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation OMIM:616171
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Choreoathetosis, Self-injurious behavior, Dys... OMIM:300322
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Cryptorchidism, Proximal renal tubular acidosis, Failure to t... OMIM:615824
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Small for gestation... OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Jaundice, Macroorchidism,... ORPHA:90790
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia, Cirrhosis... ORPHA:363400
Gapo Syndrome
Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea ORPHA:2067
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response ... ORPHA:363528
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy, Jaundice, Chol... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ... OMIM:608594
Congenital Toxoplasmosis
Microphthalmia, Ascites, Intrauterine growth retardation ORPHA:858
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Polyuria, Small for gestational age, Insulin resistance, Dysmetria, G... OMIM:606721
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Dysphagia OMIM:255100
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Micropenis, Abnormal rep... OMIM:300486
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Decreased fertility in females, Splenom... OMIM:269700
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Oligomenorrhea OMIM:613877
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1466
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re... OMIM:191830
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples OMIM:273400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
White Sponge Nevus 2
Edema OMIM:615785
Cri-Du-Chat Syndrome
Hyperactivity, Small for gestational age, Hypospadias, Abnormality of the kidney, Aggressive beha... OMIM:123450
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis,... OMIM:124000
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Inability to walk, Organic aciduria OMIM:617184
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Obesity, Hyp... ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, A... OMIM:617796
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Displacement of the ur... ORPHA:2377
Lassa Fever
Jaundice, Menometrorrhagia, Oliguria, Dysphagia ORPHA:99824
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Decreased body weight OMIM:300958
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Pain insensitivity, Hyperactivity, Aggressive behavior, Cryptorchidism, Shuffling g... OMIM:300534
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
13Q12.3 Microdeletion Syndrome
Hyperactivity, Impaired pain sensation, Cryptorchidism, Obesity, Failure to thrive, Self-mutilation ORPHA:412035
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... ORPHA:485405
Fg Syndrome 3
Cryptorchidism, Hyperactivity OMIM:300406
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria OMIM:300971
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Peritonitis, Metrorrhagia ORPHA:168816
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... OMIM:214110
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m... ORPHA:125
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Failure to thrive, Hypospadias OMIM:618874
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... OMIM:151100
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... ORPHA:99725
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G... OMIM:618820
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Disproportionate tall stature, Tall stature OMIM:309520
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Ketotic hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Irregul... ORPHA:79240
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... ORPHA:69663
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Temple Syndrome
Small for gestational age, Precocious puberty, Cryptorchidism, Overweight, Obesity, Truncal obesi... OMIM:616222
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity OMIM:603233
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Ataxia, Dysphagia, Aggressive behavior OMIM:614707
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Dysmenorrhea, Splenomegaly, Irregular menstruation, Hepatocellular ad... ORPHA:264580
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Failure to thrive, Thyroid... ORPHA:90674
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Post... ORPHA:440713
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99228
Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99226
Turner Syndrome
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:881
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy ORPHA:6
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin resistance, Insulin-resistant diabetes mel... ORPHA:79086
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, U... OMIM:214100
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Infertility, Renal arter... ORPHA:71273
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Chromosome 10Q26 Deletion Syndrome
Broad-based gait, Small scrotum, Small for gestational age, Hyperactivity, Aggressive behavior, C... OMIM:609625
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroidism, Obesity, Self-inj... ORPHA:254346
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea OMIM:606593
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:48431
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Hyperactivity, Ataxia, Inability to walk, Primary adrenal i... ORPHA:139396
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Citrullinemia Type Ii
Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessness, Aggressive behavior, Abnorm... ORPHA:247585
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabet... OMIM:615238
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Angelman Syndrome
Broad-based gait, Hyperactivity, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... ORPHA:72
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Hepatic steatosis, Decr... OMIM:619321
Leptin Receptor Deficiency
Obesity, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, P... OMIM:614963
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Abnormal t... ORPHA:163681
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Neonatal death, Failure to thrive OMIM:245400
Pierpont Syndrome
Microphthalmia ORPHA:487825
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Aminoaciduria, Micropenis, Failure to thrive OMIM:220120
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Retrograde e... ORPHA:230
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Lacticaciduria OMIM:619063
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Goiter OMIM:274300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Inability to walk, Lacticacidu... ORPHA:26791
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Pierpont Syndrome
Microphthalmia OMIM:602342
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... OMIM:246450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ve... ORPHA:444077
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Obesity OMIM:605231
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hepatitis, Increased bo... ORPHA:905
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ataxia ORPHA:833
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Aminoaciduria, Truncal ataxia, Failure to thrive OMIM:250620
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Aminoaciduria, Loss of ability to walk in early childhood OMIM:609560
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturi... ORPHA:96149
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:228390
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Falls, Lacticaciduria OMIM:618811
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Aggressive behavior, Pica, Obesity, Organic aciduria OMIM:620191
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Cole Disease
Hyperglycemia OMIM:615522
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Lacticaciduria, Dysphagia OMIM:618247
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,... ORPHA:79328
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Renal tubular acidosis, Organic aciduria, Nonprogressive cerebellar ataxia, Fail... ORPHA:431361
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive OMIM:617140
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation ORPHA:290
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Hepatic melanin-like lysosomal pigmentation, Nep... OMIM:208085
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failu... OMIM:604273
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria, Anorexia, Weight loss ORPHA:514
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Po... ORPHA:65759
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Leigh Syndrome
Hypoglycemia, Ataxia, Dysphagia, Chorea, Lacticaciduria, Methylmalonic aciduria, Generalized amin... ORPHA:506
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithias... ORPHA:798
Klippel-Trénaunay Syndrome
Hematuria, Hepatomegaly, Abnormality of the menstrual cycle ORPHA:90308
Temtamy Syndrome
Microphthalmia ORPHA:1777
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Tiglic Acidemia
Aminoaciduria OMIM:275190
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Acute Promyelocytic Leukemia
Metrorrhagia, Anorexia, Weight loss, Hematuria, Addictive alcohol use ORPHA:520
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hyperactivity, Cryptorch... ORPHA:3310
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Intrauterine growth retardation OMIM:610756
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Holocarboxylase Synthetase Deficiency
Organic aciduria, Ataxia, Anorexia, Weight loss ORPHA:79242
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hyperin... ORPHA:71212
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Crypto... ORPHA:96121
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal ag... ORPHA:464306
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Monosomy 18P
Microphthalmia, Lymphedema ORPHA:1598
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Methylm... OMIM:612073
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Ataxia, Methylmalonic aciduria ORPHA:1933
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Xeroderma Pigmentosum
Ataxia, Cryptorchidism, Aminoaciduria, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:910
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... ORPHA:534
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation OMIM:300863
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Splenomegaly, Increased urinary O-linke... ORPHA:812
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ascites OMIM:602361
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Phenylketonuria
Aminoaciduria ORPHA:716
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port... OMIM:207800
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Anorexia, Hypercalciuria, Macronodu... OMIM:557000
Porphyria Cutanea Tarda
Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Portal inflammation, Stage 5 chroni... ORPHA:101330
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia ORPHA:664
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... OMIM:605711
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Edema ORPHA:2505
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Failure to thrive, Microvesicular hepatic steatosis, Lacticaciduria, Macrovesicular... OMIM:615595
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Prolonged neon... ORPHA:99832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Dend Syndrome
Hyperglycemia ORPHA:79134
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Hepatoblastoma, Vesicoureteral reflux, Nephropat... ORPHA:116
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Chorea, Abnormal pancreas morphology, Limb ataxia, Gait atax... ORPHA:48818
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematu... ORPHA:31826
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Seckel Syndrome 2
Microphthalmia OMIM:606744
Distal Duplication 17Q
Accessory spleen, Hyperactivity, Cryptorchidism, Vesicoureteral reflux, Renal duplication ORPHA:3379
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Thyroid ... ORPHA:653
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... ORPHA:478
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Paresthesia, Pancreatitis ORPHA:727
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Cryptorchidism, Polysplenia, Attention deficit hyperactivity disorder, Dilatation ... OMIM:614294
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox... OMIM:309000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Decreased response to growth ho... ORPHA:470
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:398069
Wolfram Syndrome 2
Neurogenic bladder, Diabetes mellitus, Oligomenorrhea, Primary amenorrhea OMIM:604928
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Nance-Horan Syndrome
Microphthalmia ORPHA:627
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Intrauterine growth retardation ORPHA:163966
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Ataxia, Splenomegaly, La... OMIM:252010
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased body weight OMIM:615830
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Ataxia OMIM:603585
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism OMIM:619950
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Cholera
Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury ORPHA:173
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Dysphagia, Failure to thrive, H... OMIM:613327
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Joubert Syndrome 37
Microphthalmia OMIM:619185
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Pancreatitis, Oliguria, Acute kidney injury, Nephrotic range proteinur... ORPHA:544482
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Hyperactivity, Abnorma... ORPHA:805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Intrauterine growth retardation OMIM:616395
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Ataxia, Aciduria, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundic... OMIM:203700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Mitochondrial swelling, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Oliguria, Reversible renal failu... ORPHA:90051
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:251230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Temtamy Syndrome
Microphthalmia OMIM:218340
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1915
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Galloway-Mowat Syndrome 3
Microphthalmia, Intrauterine growth retardation, Edema, Oligohydramnios OMIM:617729
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios ORPHA:3301
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... OMIM:619991
Moebius Syndrome
Microphthalmia OMIM:157900
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... ORPHA:99776
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Small for gestational age, Aminoaciduria, Neonatal death, Failure to thrive, Neonat... OMIM:619055
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:613451
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Primary hyperparathyroidism, Irregular menstruation, Increased body weight, Ab... ORPHA:189427
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios OMIM:619879
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Polyhydramnios, Edema OMIM:302960
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Ascites ORPHA:974
Marden-Walker Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:248700
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Oroticaciduria, Renal tubular acidosis, Dysphagia, Failure to thrive OMIM:616457
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele OMIM:614424
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Lujo Hemorrhagic Fever
Renal insufficiency, Fulminant hepatitis, Oliguria, Dysphagia, Microscopic hematuria ORPHA:319213
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... ORPHA:744
Sotos Syndrome
Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall stature OMIM:117550
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Ataxia, Chorea, Lacticaciduria, Gait ataxia, Dysphagia, ... ORPHA:255210
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Fanconi Anemia, Complementation Group F
Microphthalmia, Polyhydramnios, Intrauterine growth retardation OMIM:603467
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Elevated circulating thyroid-stimulating hormone concen... OMIM:620185
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Argininosuccinic Aciduria
Hepatomegaly, Failure to thrive, Ataxia, Aminoaciduria, Hepatic fibrosis, Oroticaciduria OMIM:207900
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Citrullinemia, Classic
Hepatomegaly, Ataxia, Oroticaciduria, Cirrhosis, Failure to thrive OMIM:215700
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Hawkinsinuria
Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Fai... OMIM:140350
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Pmm2-Cdg
Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, At... ORPHA:79318
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Narcolepsy 7
Obesity OMIM:614250
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Small scrotum, Hypospadias, Cryptorchidism, Paroxysmal bursts of laughter, Renal h... OMIM:309580
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Failure to thrive, Oroticaciduria, Dysphagia OMIM:620358
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Micro Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2510
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Refsum Disease
Microphthalmia ORPHA:773
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Abnormality of reproductive system physiology, Increased ... ORPHA:1501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Ataxia ORPHA:23
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Splenomegaly, Stage 5 chronic kidney disease, Truncal obesity, A... OMIM:222700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Oroticaciduria, Hepatitis, Progressive cerebellar ata... ORPHA:415
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity OMIM:615989
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:364577
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:251300
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Mosaic Trisomy 1
Microphthalmia, Increased nuchal translucency, Polyhydramnios ORPHA:1692
Fumarase Deficiency
Failure to thrive, Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cho... OMIM:606812
Alkaptonuria
Aminoaciduria, Prostatitis, Nephrolithiasis ORPHA:56
Papillorenal Syndrome
Microphthalmia, Edema OMIM:120330
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly OMIM:619148
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Interstitial Lung And Liver Disease
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Cirrhosis, Failure to... OMIM:615486
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Organic aciduria, Ataxia OMIM:253260
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Failure to thrive, Oroticaciduria, Ataxia OMIM:311250
Trisomy 18
Spina bifida, Anencephaly, Oligohydramnios, Microphthalmia, Intrauterine growth retardation ORPHA:3380
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Peritonitis, Hemoglobinuria, Acute kidney injury, Pancreatitis ORPHA:90038
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Increased nuchal translucency, Microphthalmia, Ascites, Intrauterine growth retar... ORPHA:1052
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery ... OMIM:617913
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury OMIM:235400
Orotic Aciduria
Hematuria, Failure to thrive, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:193
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria OMIM:253270
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2714
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Splenomegaly ORPHA:93
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... OMIM:614946
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Splenomegaly, Aminoaciduria, Ataxia OMIM:616084
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
1Q21.1 Microdeletion Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:250989
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida ORPHA:2092
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly OMIM:208400
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Pancreatic hyperplasia, Jaundice, Acute kidney i... ORPHA:99829
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Pulmonary edema ORPHA:137675
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:223370
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida OMIM:234100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Wiskott-Aldrich Syndrome
Nephropathy, Hypoplasia of the thymus, Glomerulopathy, Abnormality of the menstrual cycle ORPHA:906
Pallister-Hall Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:146510
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Biotinidase Deficiency
Organic aciduria, Ataxia ORPHA:79241
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular e... ORPHA:91500
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Fanconi Anemia, Complementation Group L
Microphthalmia, Intrauterine growth retardation OMIM:614083
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios ORPHA:3103
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Secondary ameno... ORPHA:96253
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Isolated Arrhinia
Microphthalmia ORPHA:1134
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, H... ORPHA:2968
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:608670
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Abno... ORPHA:3385
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... ORPHA:84
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:249000
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Spina bifida ORPHA:508498
22Q11.2 Deletion Syndrome
Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical hernia, Micropht... ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Polyhydramnios, Intrauterine growth retardation OMIM:620186
Cardiogenic Shock
Oliguria ORPHA:97292
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Fryns Syndrome
Microphthalmia, Chylothorax, Polyhydramnios OMIM:229850
Myhre Syndrome
Pericardial effusion, Microphthalmia, Intrauterine growth retardation OMIM:139210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Intrauterine growth retardation OMIM:616975
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:133540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:620005
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Ataxia, Oliguria ORPHA:466650
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation ORPHA:1587
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Hypospadias, Cryptorchidism, Hypogonadism OMIM:163950
Steinfeld Syndrome
Microphthalmia OMIM:184705
Yunis-Varon Syndrome
Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Microph... ORPHA:3472
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Charge Syndrome
Microphthalmia, Anophthalmia, Polyhydramnios, Intrauterine growth retardation ORPHA:138
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Fontaine Progeroid Syndrome
Microphthalmia, Intrauterine growth retardation, Umbilical hernia, Oligohydramnios OMIM:612289
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Degcags Syndrome
Microphthalmia, Polyhydramnios, Intrauterine growth retardation OMIM:619488
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia ORPHA:50
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Monosomy 9P
Microphthalmia ORPHA:261112
Hellp Syndrome
Increased body weight ORPHA:244242
Mend Syndrome
Microphthalmia ORPHA:401973
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia OMIM:300166
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Cockayne Syndrome
Microphthalmia ORPHA:191
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Focal Dermal Hypoplasia
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta OMIM:305600
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Witteveen-Kolk Syndrome
Microphthalmia, Intrauterine growth retardation, Polyhydramnios, Branchial fistula OMIM:613406
8Q24.3 Microdeletion Syndrome
Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine growth retardation... ORPHA:508488
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:619539
Charge Syndrome
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Microphthalmia OMIM:214800
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria, Distal sensory impairment OMIM:609242
Pallister-Hall Syndrome
Microphthalmia, Intrauterine growth retardation, Umbilical hernia, Oligohydramnios ORPHA:672
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation OMIM:113620
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation, Polyhydramnios OMIM:268300
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Familial Melanoma
Neoplasm of the pancreas ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609048

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Ovary - MPATH pathological process term developmental dysplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Pancreas - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Testis - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Epididymis - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdk4.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inducible deletion of CDK4 and CDK6 - deciphering CDK4/6 inhibitor effects in the hematopoietic system. Haematologica (October 2021) Cdk4tm1c(NCOM)Mfgc Cdk4tm1a(NCOM)Mfgc 32855282
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Cdk4tm1b(NCOM)Mfgc PMC8163790
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdk4tm1.1Bbd PMC7263671
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdk4R24C PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdk4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdk4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk4tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cdk4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk4tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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