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Gene: Mei4 MGI:1922283

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Gene Summary

Name:
meiotic double-stranded break formation protein 4
Synonyms:
4930486G11Rik

Order Alleles

IMPC Data Collections

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
small testis Mei4em1(IMPC)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Mei4em1(IMPC)Mbp HOM Early adult 2.65×10-06
abnormal kidney morphology Mei4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Mei4em1(IMPC)Mbp HOM Early adult 8.70×10-05
enlarged spleen Mei4em1(IMPC)Mbp HOM Early adult 0.00
cataract Mei4em1(IMPC)Mbp HOM   Early adult 1.41×10-08
abnormal retina morphology Mei4em1(IMPC)Mbp HOM   Early adult 6.21×10-05
small kidney Mei4em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Mei4em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Mei4em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Mei4em1(IMPC)Mbp HOM Early adult 1.38×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Mei4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mei4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
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 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Young Syndrome
Azoospermia OMIM:279000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Am... OMIM:615542
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased female li... ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... ORPHA:8
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Perineal hypospadias, Abnormality of the endocrine system, Bifid scrot... OMIM:264600
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Hemochromatosis, Type 1
Azoospermia, Impotence, Testicular atrophy, Amenorrhea, Diabetes mellitus, Hypogonadotropic hypog... OMIM:235200
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital... OMIM:273250
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Bardet-Biedl Syndrome 18
Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... ORPHA:1772
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidis... ORPHA:361
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly OMIM:618881
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
48,Xxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96263
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, P... ORPHA:251066
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Increased circulating iron concentration, ... OMIM:613313
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Hypergonadotropic hypogonadism, E... OMIM:614307
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Senior-Loken Syndrome
Premature ovarian insufficiency, Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigm... ORPHA:3156
49,Xxxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96264
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... ORPHA:247768
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Reduced sperm motility, Splenomegaly, Retinal degeneratio... OMIM:602271
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... ORPHA:325124
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Hypothy... OMIM:222300
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin... ORPHA:1473
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione... OMIM:618660
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in... ORPHA:79237
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... ORPHA:168569
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Premature ovarian insu... OMIM:230400
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Congenital hepatic fibrosis, Type II di... ORPHA:2377
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Type II diabetes mellitus, Azoospermia OMIM:210900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Impotence, Cataract, Diabetes mellitus, Elevated transferrin sat... OMIM:606069
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... ORPHA:91351
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Am... ORPHA:90795
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypothyroidism, Hypera... ORPHA:254913
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary ameno... OMIM:612526
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Hyperornithinemia, Chorioretinal degeneration, Chorioretinal atr... ORPHA:414
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Erectile dysfunction, Hep... ORPHA:465508
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto... ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating creatine ki... ORPHA:79095
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal circulating cre... ORPHA:899
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly... ORPHA:79312
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:214110
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ... ORPHA:786
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Papillorenal Syndrome
Stage 5 chronic kidney disease, Elevated circulating creatinine concentration, Macular degenerati... OMIM:120330
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Male hypogonadism, Hypoparathyroidism, Cholelithiasis, Chronic a... OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, C... OMIM:615181
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Azoospermia, Pancreatic hypoplasia, Hyperg... OMIM:602782
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Epididymal c... OMIM:193300
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal... OMIM:615986
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Attenuation of retinal bloo... OMIM:614376
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Conjunctival icterus, Cholelithiasis, Increased mean corpuscular hemoglob... OMIM:194380
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excr... OMIM:256550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphospha... OMIM:146200
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg... OMIM:616217
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope... ORPHA:294
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Beta-Thalassemia Intermedia
Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean... ORPHA:231222
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome... ORPHA:79292
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu... OMIM:266200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Iris hyp... ORPHA:79477
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus arteriosus, Decreased fert... ORPHA:84
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma OMIM:617100
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Impai... OMIM:604278
Gaucher Disease Type 1
Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Ping... ORPHA:77259
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Hepatic ... OMIM:278000
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm... ORPHA:2969
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism, Developmental ... OMIM:618440
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Aminoaciduria ORPHA:664
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... OMIM:602347
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Pancreatic lymph... ORPHA:1655
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect... OMIM:610125
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,... OMIM:603903
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cho... ORPHA:139471
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:457077
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... OMIM:209900
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ... ORPHA:892
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Developmental glaucoma, Hepatomeg... OMIM:610199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepato... ORPHA:264580
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se... ORPHA:79083
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fr... OMIM:611881
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,... ORPHA:158029
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,... OMIM:619802
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ... OMIM:226990
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia... OMIM:614866
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites, Hydronephrosis... OMIM:235255
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea... OMIM:617388
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstrua... ORPHA:79240
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Cataract, Retinal degeneration, Diab... OMIM:277700
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Conjunctival icterus, Cholelithiasis,... ORPHA:53035
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatremia, Renal ... OMIM:617913
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Ureteral duplication, Accessory spleen, Microco... ORPHA:564
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Cystinosis, Nephropathic
Recurrent corneal erosions, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, R... OMIM:219800
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex... OMIM:236670
Sitosterolemia 1
Corneal arcus, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic ... OMIM:210250
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, C... OMIM:208540
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Knobloch Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Splenomegaly, Pancreatic fibrosis... ORPHA:699
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphadenopathy, Elev... ORPHA:829
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... ORPHA:534
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit... OMIM:251880
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Delayed puberty, Abnormal vitreous humor morpho... ORPHA:649
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Cockayne Syndrome
Delayed puberty, Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Band keratop... ORPHA:191
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom... OMIM:608885
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:239200
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidi... OMIM:269200
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Azoospermia ORPHA:2072
Alagille Syndrome 1
Hypertriglyceridemia, Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, R... OMIM:118450
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Cirrhosis,... OMIM:276700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Wilson Disease
Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, High nonceruloplasmin-bound serum cop... OMIM:277900
Cockayne Syndrome Type 3
Hepatomegaly, Keratoconjunctivitis sicca, Hydroureter, Retinal dystrophy, Corneal ulceration, Uni... ORPHA:90324
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Remnant... OMIM:620185
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreas... OMIM:269700
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... ORPHA:91500
Hardikar Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers... OMIM:301068
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Cardiomega... OMIM:620376
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in femal... OMIM:608594
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Elevated circulating uroporp... OMIM:263700
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy... ORPHA:29073
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Hypothyroi... OMIM:300166
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Nephropathy, Abnormal optic nerve mo... ORPHA:90340
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism... ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99226
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len... OMIM:619539
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Holoprosencephaly 2
Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hyaloid vasc... OMIM:157170

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 hypoplasia Mei4em1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term hypoplasia Mei4em1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term atrophy Mei4em1(IMPC)Mbp HOM Early adult
Ovary - MPATH pathological process term developmental dysplasia Mei4em1(IMPC)Mbp 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 Mei4.

No publications found that use IMPC mice or data for Mei4.

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
Mei4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mei4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Mei4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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