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Gene: Kdm3a MGI:98847

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Gene Summary

Name:
lysine (K)-specific demethylase 3A
Synonyms:
Jmjd1a,  Jmjd1,  C230043E16Rik,  1700105C21Rik,  Tsga

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
abnormal behavior Kdm3aem1(IMPC)Mbp HOM Early adult 1.89×10-11
hyperactivity Kdm3aem1(IMPC)Mbp HOM Early adult 1.40×10-05
abnormal heart morphology Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Kdm3aem1(IMPC)Mbp HOM   Early adult 1.73×10-05
decreased thigmotaxis Kdm3aem1(IMPC)Mbp HOM Early adult 2.12×10-11
impaired glucose tolerance Kdm3aem1(IMPC)Mbp HOM   Early adult 9.52×10-06
abnormal skin morphology Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Kdm3aem1(IMPC)Mbp HOM   Early adult 2.33×10-06
small kidney Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
male infertility Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Kdm3aem1(IMPC)Mbp HOM   Early adult 5.83×10-06
decreased bone mineral content Kdm3aem1(IMPC)Mbp HOM Early adult 2.12×10-05
small spleen Kdm3aem1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Kdm3aem1(IMPC)Mbp HOM Early adult 2.38×10-13

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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 Dorso Ventral

50 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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Histopathology

Images

6 Images

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Human diseases caused by Kdm3a 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 Kdm3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
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
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
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
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
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
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
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
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
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 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 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
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
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
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
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
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 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 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
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
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 17
Male infertility OMIM:617214
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
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
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
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 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
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 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Deleted in azoospermia
Azoospermia OMIM:400003
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... OMIM:608600
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea... ORPHA:79085
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... ORPHA:435660
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased... OMIM:615238
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in female... ORPHA:528
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Sk... ORPHA:435651
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su... OMIM:608709
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Young Syndrome
Azoospermia OMIM:279000
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
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
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Reduced subcutaneous adipose t... ORPHA:363400
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal... ORPHA:79083
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss... OMIM:615381
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98855
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fib... ORPHA:2348
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra... ORPHA:3002
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98863
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to con... ORPHA:98853
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Enlarged kidney, Anemia, Abnormality of the lymphatic sys... ORPHA:464329
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... ORPHA:369
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ... OMIM:605911
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry... ORPHA:3055
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy... ORPHA:26793
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyperli... OMIM:232400
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci... ORPHA:2298
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:71212
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Myopathy, Elevated circulating acylcarnitine concentration ORPHA:26792
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Reduced C-peptide level OMIM:618856
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Left ... OMIM:619048
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hyperi... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hyp... ORPHA:263455
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Failure to thrive, E... OMIM:617872
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous adipose tissue in limbs,... OMIM:248370
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest... ORPHA:633
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase ... OMIM:620357
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:264580
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature ORPHA:2849
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia ORPHA:94124
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Cirrhosis, Elevated circulating hepatic transaminase ... OMIM:608594
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Decreased muscle m... OMIM:619013
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann... OMIM:617591
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Hypertriglyceridemia, Clitoral hypertrophy, Cirrhosis, Elevated circulating ... OMIM:269700
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:613327
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ethanolaminosis
Cardiomegaly OMIM:227150
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopeni... ORPHA:99827
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:369840
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... ORPHA:96184
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hyperlipidemia, Proximal amyotrophy, Hyperaldosteronism, Dorsocervical fat... ORPHA:189427
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiom... OMIM:235200
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Limb hypertonia, Hepatospleno... ORPHA:263501
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, T... ORPHA:73272
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Male hypog... ORPHA:432
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis, Splenomegaly OMIM:618398
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Immunodeficiency 61
Obesity OMIM:300310
Morm Syndrome
Truncal obesity ORPHA:75858
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... OMIM:214150
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Limb hypertonia, Hyperalaninemia OMIM:615918
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Li... ORPHA:300536
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Nephronophthisis 15
Obesity OMIM:614845
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Aromatase Deficiency
Male infertility, Tall stature, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic... ORPHA:91
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Impotence, Elevated transferrin saturation, Increased circulating ferrit... OMIM:606069
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie... ORPHA:71
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiom... OMIM:252920
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Fulminant hepatitis, Lymphopenia, Hypotension, Leukocytosis, M... ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Osteolysis involving bones o... ORPHA:464321
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Proximal amyotrophy, Hyperlipidemia OMIM:604484
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Impaired glucose tolerance... ORPHA:769
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, Elevated circulating creatine kinase concentration, EM... OMIM:615418
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:228305
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Glomerulone... ORPHA:340
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Elevat... ORPHA:98908
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Cryptorchidism, Precocious puberty, Obesity, Arthrogryposis multiple... ORPHA:254346
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ... ORPHA:99826
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hyperammonemia, Elevated ... OMIM:620454
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Bardet-Biedl Syndrome 16
Obesity, External genital hypoplasia, Hypogonadism OMIM:615993
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis, Penile freckling ORPHA:210548
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ... OMIM:603233
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:301045
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Decreased body w... ORPHA:444490
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Failure to th... ORPHA:2088
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly OMIM:620603
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia OMIM:182290
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hepatic steatosis, Hypogonadism OMIM:615996
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Trisomy 5P
Obesity ORPHA:1742
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, EMG:... ORPHA:98907
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothyroidism, Incr... ORPHA:90674
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Biemond Syndrome Type 2
Obesity ORPHA:141333
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Hyperlipidemia, Elevated circulating hepatic transaminase concentration ORPHA:2089
Dpm1-Cdg
Muscular dystrophy, External genital hypoplasia, Elevated circulating hepatic transaminase concen... ORPHA:79322
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Werner Syndrome
Lipoatrophy, Thyroid carcinoma, Slender build, Type II diabetes mellitus, Hypogonadism, Lipodystr... ORPHA:902
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, S... OMIM:269920
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia ORPHA:79319
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Neonatal hypoglycemia, Anterior hypopituitarism ORPHA:631
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Seckel Syndrome 10
Hypertriglyceridemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circula... OMIM:617253
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... OMIM:614450
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma ORPHA:480907
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Borjeson-Forssman-Lehmann Syndrome
Obesity, Hypoplasia of the prostate, Micropenis, Cryptorchidism OMIM:301900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
H Syndrome
Hypertriglyceridemia, Azoospermia, Camptodactyly, Decreased testicular size, Hepatosplenomegaly, ... ORPHA:168569
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Insulin resistance, Di... OMIM:616541
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, External genital hypoplasia, Hyper... OMIM:176270
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Erectile dysfunction, Amenorrhea, Elevated jug... ORPHA:465508
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio... OMIM:236200
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence, Abnormal renal physiology, Arrhythmia, Atrioventricular ... ORPHA:85447
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Weakness of facial musc... OMIM:619418
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... OMIM:208920
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... OMIM:255120
Classic Galactosemia
Premature ovarian insufficiency, Jaundice, Reduced bone mineral density, Hepatomegaly, Male infer... ORPHA:79239
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrenal insuff... OMIM:617575
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ... OMIM:610644
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,... ORPHA:10
Hypercholesterolemia, Familial, 3
Tendon xanthomatosis, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Obesity, Failure to thrive in infancy, Hypercholesterol... ORPHA:819
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal bleeding, Fourth heart sou... ORPHA:57777
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating... ORPHA:508
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Compulsive be... OMIM:261600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot... OMIM:617093
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... ORPHA:52430
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Premature ovarian insufficiency, Hepatomegaly, Ele... OMIM:212065
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Abnormal reproductive system morp... ORPHA:70472
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,... OMIM:261680
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Hyperactivity, Patent foramen ovale, Attention deficit hyperact... OMIM:617182
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Hip contracture, Obesity, Truncal ob... OMIM:618363
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... ORPHA:3077
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hypoalbuminemia OMIM:602579
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased circulating ... OMIM:270450
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:610198
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Hypo... OMIM:103580
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm... ORPHA:157
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Premature ovarian insufficiency, Foot dorsiflexor weakness OMIM:618124
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Hypertriglyceridemia, Jaundice, Elevated circulating hepat... ORPHA:275761
Leptospirosis
Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemo... ORPHA:509
Schaaf-Yang Syndrome
Camptodactyly, Cryptorchidism, Obesity, Flexion contracture, Hypogonadism, Failure to thrive in i... OMIM:615547
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Increased LDL cholesterol concentration,... OMIM:277460
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Distal lower limb muscle weakness ORPHA:459033
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture OMIM:614202
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Premature ovarian insufficiency, Truncal obesity ORPHA:2928
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Osteopenia OMIM:601813
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia, Bila... OMIM:619471
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, Flexion contracture of digit, Decreased testicular size, Reduced sub... ORPHA:3041
Carpenter Syndrome
External genital hypoplasia, Obesity, Umbilical hernia, Cryptorchidism, Abnormal reproductive sys... ORPHA:65759
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Obesit... ORPHA:90041
Xp21 Deletion Syndrome
Hypertriglyceridemia, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration... ORPHA:261476
Wilson-Turner Syndrome
Cryptorchidism, Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Small for gestational ... OMIM:300869
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... OMIM:614473
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Laurence-Moon Syndrome
Obesity OMIM:245800
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial telangiectasia, H... OMIM:620141
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia ORPHA:89844
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Obesity, Umbilical hernia, Cryptorchidism, Micropenis ORPHA:171839
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Pituitary Adenoma 4, Acth-Secreting
Purpura, Abnormal fear-induced behavior, Emotional lability, Hypertension, Nephrolithiasis, Osteo... OMIM:219090
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:608836
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Hypogonadotropic hypogonadism ORPHA:177910
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypospadias, Microphallus, Cryptorchidism, Failure to thrive, Ob... ORPHA:94065
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Hepatomegaly, Ventricular septal hypertrophy, Left bundle branch block,... OMIM:115197
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole... ORPHA:79259
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje... OMIM:614096
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Tricuspi... ORPHA:615
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Facial hypotonia, Obesity, Shawl scrotum, Micropenis OMIM:620439
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator... ORPHA:186
Baralle-Macken Syndrome
Obesity OMIM:619255
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia, Abnormal intrahepatic bile duct morphology ORPHA:363618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Wrist flexion contracture, Obesity, Flexion contracture, Male hypogonadism, Mac... OMIM:300055
Congenital Myopathy 9A
Obesity OMIM:618822
Chung-Jansen Syndrome
Obesity, Cryptorchidism OMIM:617991
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia, Hypothyroidism, Hyperglycemia ORPHA:90065
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Neoplasm of the pancreas, Elevated circulating hepatic transamin... ORPHA:2959
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Camptodactyly of finger, Obesity, Hypogonadism, ... ORPHA:3409
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dysphagia, Restlessness, Cardiomegaly, Hypoglycemia, Abnormal concen... ORPHA:391428
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Thenar muscle atrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:604360
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibros... OMIM:253250
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Obesity, Female sexual dysfunction ORPHA:2073
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:228308
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Cardiomegaly ORPHA:858
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreas... OMIM:201450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:212138
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Skeletal muscle fibrosis, Failure to thrive, Achilles tendon contractu... OMIM:616263
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance OMIM:615630
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the ski... OMIM:617718
Retinitis Pigmentosa 51
Obesity OMIM:613464
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Failure to thrive, Obesity, Cryptorchidism ORPHA:412035
Atelis Syndrome 2
Vitreous hemorrhage, Anemia, Hyperinsulinemia, Supravalvar pulmonary stenosis, Pulmonic stenosis,... OMIM:620185
Pigmented Nodular Adrenocortical Disease, Primary, 2
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Paradoxi... OMIM:610475
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Clark-Baraitser Syndrome
Obesity OMIM:617752
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... ORPHA:125
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De... ORPHA:14
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Reduced bone mineral density, Retinal neovasculariza... ORPHA:891
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Whipple Disease
Hypothyroidism, Insulin resistance, Cachexia, Hyponatremia ORPHA:3452
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Glycogen Storage Disease Ia
Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration,... OMIM:232200
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Obesity, Hypogonadism, Abdominal obesity, Insulin resistance, Dia... OMIM:209900
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Polycystic ovaries, Truncal obesity, Macroorch... ORPHA:284180
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi... OMIM:227810
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Gitelman Syndrome
Delayed puberty, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Graves disease, H... ORPHA:358
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen... OMIM:620642
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hypospadias, Decreased testicular size, Hypogonadism, Abdominal obe... OMIM:300354
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Hyperlipidemia, Hyperuricemia ORPHA:35909
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Widened atrophic scar, Umbilical hernia, C... ORPHA:536532
Mirage Syndrome
Radial club hand, Hypospadias, Anemia, Petechiae, Microphallus, Hypergonadotropic hypogonadism, H... OMIM:617053
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Hypertension, Recurrent hand f... ORPHA:449291
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration OMIM:620191
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Hypoplasia of penis, Azoospermia, Abnormal dental enamel morpholog... ORPHA:96263
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Camptodactyly of toe, Decreased testicular size, Skeletal muscle atrophy, Hy... ORPHA:127
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Rimmed vacuoles, Hyperlipidemia, Elevated circulating creatine kinase... ORPHA:565612
Waldenström Macroglobulinemia
Anorexia, Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Normocytic anemia, Hepa... ORPHA:33226
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Heparan... OMIM:252900
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog... OMIM:609069
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:619802
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Myopathy ORPHA:977
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism... OMIM:307030
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Joubert Syndrome 37
Hepatomegaly, Decreased testicular size, Obesity, Cryptorchidism, Micropenis OMIM:619185
Cornelia De Lange Syndrome 5
Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Micropenis OMIM:300882
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Chronic hepatic failure, Cholestasis, Lower limb muscle weakness, Skeletal myopathy... ORPHA:746
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction... OMIM:603903
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hyperammonemia, Acute hepatic steatosis OMIM:210200
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia OMIM:614702
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Megalencephaly
Truncal obesity ORPHA:2477
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatin... ORPHA:681
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Hypertension, Leukocytosis, Lymphadenitis, Proteinuria, Cerebral hem... OMIM:618886
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Elevated circulating hepatic trans... OMIM:619127
Stormorken Syndrome
Abnormal bleeding, Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Epistaxi... OMIM:185070
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fibers, Cholestasis, Elevated c... OMIM:614924
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Hypospadias, Decreased skull ossification, Hypertrophic cardiomyopathy, Hydronephrosi... OMIM:616897
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Methylmalonic... ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... OMIM:617600
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly, Penile freckling, Hyd... OMIM:605309
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Microvesicular hepa... ORPHA:66634
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv... ORPHA:99931
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega... OMIM:210250
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Dysphagia, Splenomega... OMIM:252930
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Hyperactivity, Abnormal mitral valve morphology, Dysphagia, Splenom... ORPHA:581
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age ORPHA:1830
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obesity, Hyper... ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Shox-Related Short Stature
Obesity ORPHA:314795
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Hypoplastic labia minora, Infertility, Clitoral ... ORPHA:398079
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Tatton-Brown-Rahman Syndrome
Obesity, Proportionate tall stature, Neuroendocrine neoplasm, Umbilical hernia ORPHA:404443
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip... ORPHA:77293
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Tricuspid regurgitation, Retinal ... OMIM:620371
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemia, Red... ORPHA:2126
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Pulmonic steno... OMIM:601186
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Azoospermia, Retroperitoneal fibrosis, Pancreatic hypoplasia, Pulm... OMIM:602782
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Craniofaciofrontodigital Syndrome
Osteopenia, Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, ... ORPHA:363705
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hyperalanin... ORPHA:348
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Intellectual Developmental Disorder, X-Linked 12
Microphallus, Cryptorchidism, Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Obesity, Left ventricular hypertrophy ORPHA:93952
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Azotemia, Hypoplasia of the ovary, Decreased testicular size, Flexion contract... OMIM:619321
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Glycogen Storage Disease Ib
Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration,... OMIM:232220
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly, Depression OMIM:618798
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:277900
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Hypoglycemia, Secundum atrial septal defect, Severely reduced left vent... OMIM:620609
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial... OMIM:619051
Bardet-Biedl Syndrome
Hydrometrocolpos, Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholestero... ORPHA:110
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Carpenter Syndrome 1
External genital hypoplasia, Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical h... OMIM:201000
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Abnormal testis morphology, Femoral hernia, Failure to thri... ORPHA:96147
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Neonatal hypoglycemia, Bradycardia, ST segment elevati... OMIM:261740
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Elevated circulating glutaric acid concentra... OMIM:231680
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of the hypothal... ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Facia... ORPHA:404454
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Dysphagi... ORPHA:699
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Cryptorchidism, Disproportionate tall stature, Camptodactyly OMIM:301039
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal cyst, Raynaud phenomenon, Lacun... OMIM:611773
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Purple urine, Depre... ORPHA:100924
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Hyponatremia, Hyperglycemia, Cyanosis, Small for gestational age ORPHA:391673
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Cachexia, Decreased testicular size, Camptodactyly of finge... ORPHA:85293
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He... ORPHA:294
Tangier Disease
Hypertriglyceridemia, Facial diplegia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypochol... ORPHA:31150
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... ORPHA:158048
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Depres... OMIM:619259
Rett Syndrome
Increased serum leptin, Failure to thrive, Increased serum pyruvate, Hyperammonemia ORPHA:778
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Glycosuria, Reduced pancreatic beta cells, Failure to thrive, Hyper... ORPHA:99885
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Delayed epiphyseal ossification OMIM:613320
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpholog... ORPHA:261552
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest... ORPHA:758
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Cardiomegaly OMIM:266500
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Increased body weight, Hypoplastic labia minora,... ORPHA:398069
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly, Flexion contracture, Hypoalbuminemi... OMIM:617303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... OMIM:300257
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Jaundice, Elevated circulating hepatic transaminase concentration, Hypospadi... ORPHA:93111
Kallmann Syndrome
Decreased fertility, Erectile dysfunction, Hypoplasia of penis, Dyspareunia, Abnormal morphology ... ORPHA:478
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis, Myopathy OMIM:614922
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Decreased skull ossification, Asplenia OMIM:602361
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Obesity, Failure to thrive OMIM:616364
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypospadias, Obesity, Weight loss, Cryptorchidism ORPHA:251071
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Isolated Sedoheptulokinase Deficiency
Steatorrhea, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Postprandi... ORPHA:440713
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Primary amenorrhea, Hypoplasia of ... ORPHA:247768
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Corneal scarring, Elevated circulating creatine kinase concentration, Camptodacty... OMIM:309000
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Hypoplasia of penis, Camptodactyly of finger, Hernia of t... ORPHA:3138
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polycystic ovaries, Irregular menstruation OMIM:616831
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Impotence, Increased urinary N-acety... OMIM:268800
Steinert Myotonic Dystrophy
Pelvic girdle muscle weakness, Elevated circulating hepatic transaminase concentration, Hyperchol... ORPHA:273
Beta-Ketothiolase Deficiency
Hyperuricemia, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth OMIM:620250
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Inguina... ORPHA:534
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Momo Syndrome
Large for gestational age, Tall stature, Overgrowth, Obesity ORPHA:2563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Umbilical hernia ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:261197
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Cryptorchidism, Obesity, Hernia, Micropenis, Macroglossia ORPHA:261494
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... ORPHA:1677
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Gingival bleeding, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Bloom Syndrome
Decreased fertility in females, Azoospermia, Elevated hemoglobin A1c, Cryptorchidism, Hepatic ste... OMIM:210900
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypospadias, Limb hypertonia, Congenital generalized lipodystr... ORPHA:3455
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Anemia, Petechiae, Hepatosplenomegaly, Splenomegaly, Dysphagia, Thrombocyt... OMIM:608013
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight, Facial hypotonia ORPHA:589821
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia ORPHA:790
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Punctate vasc... OMIM:192315
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia, Overgrowth OMIM:620155
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Skeletal muscle steatosis, Failure to thrive, Diffuse hep... ORPHA:436271
Glycogen Storage Disease Ic
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fall... OMIM:241080
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, C... OMIM:617713
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Dysphagia, R... ORPHA:268
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Hepatomegaly, Left ventricular outflow tract obstructi... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Anemia OMIM:618838
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Retinitis Pigmentosa 74
Obesity OMIM:616562
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypospadias, Long penis, Reduced subcutaneous adipose tissue, ... OMIM:264090
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Bardet-Biedl Syndrome 17
Obesity, Micropenis, Hypogonadism OMIM:615994
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Flexion contracture OMIM:616271
Kleefstra Syndrome 1
Hypospadias, Obesity, Cryptorchidism, Micropenis, Macroglossia OMIM:610253
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Reduced circulating growth hormone concentration, Obesity, Inguinal hernia, Umbilical hernia OMIM:620654
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Fasting hypoglycemia, Retinal hemorrhage, Dysphagia, Chronic kidney disease, S... ORPHA:25
Joubert Syndrome 8
Obesity OMIM:612291
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Cardiome... OMIM:208000
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:615356
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hepatomegaly, Cardiomeg... ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunc... OMIM:105210
Down Syndrome
Delayed puberty, Obesity, Type II diabetes mellitus, Hyperthyroidism, Umbilical hernia ORPHA:870
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly OMIM:618443
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99226
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:881
Man1B1-Cdg
Truncal obesity ORPHA:397941
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Penoscrotal hypospadias, Hypospadias, He... OMIM:270400
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Obesity, Overweight OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Hypoglycemia, Obesity, Umbilical hernia OMIM:301066
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Rift Valley Fever
Anorexia, Hematemesis, Abnormal bleeding, Jaundice, Hematuria, Melena, Anemia, Gingival bleeding,... ORPHA:319251
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Coronary artery fist... OMIM:614294
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Rhabdomyosarcoma, Hepatomegaly, Tall ... ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Abnormal thymus morphology, Cardiomegaly, Mucosal telangi... ORPHA:2463
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Urinary incontinence, Hepatomegaly, Right axis deviation, Sinus t... OMIM:232300
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Hepatomegaly ORPHA:163681
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy... ORPHA:308552
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Achondroplasia
Hypoxemia, Obesity ORPHA:15
White-Sutton Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Facial hypotonia, Obesity ORPHA:468678
Desbuquois Dysplasia 1
Obesity OMIM:251450
Mitchell-Riley Syndrome
Hyperbilirubinemia, Diabetes mellitus, Hyperglycemia OMIM:615710
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul... OMIM:618278
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Lower limb hypertonia, Generalized amyotrophy, Limb joint contracture, Splenomegaly... OMIM:301072
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus OMIM:210720
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Dysphagia, Bicuspid ... OMIM:300855
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val... OMIM:177850
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly, Skeletal muscle atro... OMIM:222700
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity, Torticollis OMIM:619680
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Obesity, Limb hypertonia OMIM:617296
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Weakness of facial musculature, Failure to thrive, Increa... OMIM:220110
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypert... OMIM:252500
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... ORPHA:3310
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Limb hypertonia, Hepatitis, Splenomegaly, Weight loss, Increased circulating ferrit... OMIM:615846
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... OMIM:216550
Cystinosis, Nephropathic
Polydipsia, Generalized aminoaciduria, Dysphagia, Splenomegaly, Stage 5 chronic kidney disease, R... OMIM:219800
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... ORPHA:391665
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,... ORPHA:464
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:445038
Distal Deletion 12Q
Maturity-onset diabetes of the young, Elbow flexion contracture, Obesity, Pituitary adenoma, Prop... ORPHA:96149
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Williams Syndrome
Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Nephrocalcinosis, Multip... ORPHA:904
Argininemia
Anorexia, Irritability, Hepatomegaly, Portal fibrosis, Oroticaciduria, Reduced erythrocyte argina... OMIM:207800
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy ORPHA:1517
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis, Hypernatremia, Hyperglycemia, Hypoglycemia, Hyperglycinemia OMIM:620423
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal tubular epithelial necrosis, Normocytic anemia, Reduced hematocrit, Decreased glo... ORPHA:91500
Angelman Syndrome
Obesity, Macroglossia OMIM:105830
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Generalized Arterial Calcification Of Infancy
Irritability, Left ventricular systolic dysfunction, Hypophosphatemic rickets, Cardiomegaly, Hype... ORPHA:51608
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati... OMIM:611126
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Hypospadias, Torticollis, Hype... OMIM:619475
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hyperactivity, Polycystic kidney dysplasia, Depression, Hypertension, Hepati... ORPHA:805
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... ORPHA:228123
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Distal amyotrophy, Obesity, Overweight, Lower limb muscle weakness ORPHA:2822
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Annular pancreas, Hypospadias, Hypoplasia of penis... ORPHA:1606
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Aplasia/hypoplasia of the uterus, ... ORPHA:96121
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio... ORPHA:980
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Fucosidosis
Hepatomegaly, Petechiae, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Bru... OMIM:230000
Cockayne Syndrome Type 3
Hepatomegaly, Hydroureter, Increased blood pressure, Unilateral renal agenesis, Neurogenic bladde... ORPHA:90324
Wagro Syndrome
Decreased testicular size, Obesity, Hypoplastic female external genitalia OMIM:612469
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Inguinal hernia, Hypocalcemia, Elbow flexion contracture, Cholestasis, Portal hypertension, Unico... OMIM:619503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Angelman Syndrome
Obesity, Delayed menarche, Precocious puberty in females ORPHA:72
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Inappropriate laughter, Hepatomegaly OMIM:618143
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Vaginal atresia OMIM:615989
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Vesicoureteral re... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Cohen Syndrome
Delayed puberty, Failure to thrive in infancy, Obesity ORPHA:193
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Kabuki Syndrome
Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Precocious puberty, Failure to... ORPHA:2322
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Left ventricular hypertrophy ORPHA:324
Aicardi-Goutières Syndrome
Irritability, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic card... ORPHA:51
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Renal cortical cysts, Vesicou... OMIM:130650
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ... OMIM:600001
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Elevated circulating hepatic transaminase concentration, Jaundice, O... OMIM:614231
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Chops Syndrome
Obesity, Cryptorchidism, Splenomegaly OMIM:616368
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Cryptorchidism, Micropenis, Inguinal hernia OMIM:618653
Digeorge Syndrome
Inguinal hernia, Cholelithiasis, Hypocalcemia, Femoral hernia, Obesity, Ovarian cyst, Splenomegal... OMIM:188400
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Increased HDL cholesterol concentration, Elevated circulating C-reactive protein concent... ORPHA:70591
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid dr... OMIM:220111
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Tricuspid regurgitation OMIM:620306
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Impulsivity, Left ventricular noncompaction card... OMIM:300967
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
22Q11.2 Deletion Syndrome
Hypospadias, Inguinal hernia, Cholelithiasis, Hypocalcemia, Abnormal dental enamel morphology, Fa... ORPHA:567
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility ORPHA:158687
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypogonadot... ORPHA:177907
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect OMIM:614653
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Purpura, Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholest... OMIM:620376
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal female external genitalia morphology, Truncal obesity ORPHA:2637
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Generalized muscle hypertrophy, Obesity, Cryptorchidi... OMIM:139210
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor... ORPHA:3384
Trichinellosis
Irritability, Dysphagia, Retinal hemorrhage ORPHA:863
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Cockayne Syndrome
Urinary incontinence, Hepatomegaly, Unilateral renal agenesis, Neurogenic bladder, Hypertension, ... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Cryptorchidism OMIM:616078
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity ORPHA:444077
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Tako-Tsubo Cardiomyopathy
Mildly elevated creatine kinase, Obesity, Abnormal circulating B-type natriuretic peptide concent... ORPHA:66529
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Failure to thrive ORPHA:369950
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Failure to thrive, Obesity, Cryptorchidism, Truncal obesity OMIM:615873
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Patent foramen ov... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Patent foramen ov... ORPHA:353277
Carpenter Syndrome 2
Camptodactyly, Bilateral cryptorchidism, Umbilical hernia, Obesity, Diaphragmatic eventration, Kn... OMIM:614976
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Familial Drusen
Macular hemorrhage ORPHA:75376
Adnp Syndrome
Cryptorchidism, Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Cystic Fibrosis
Osteopenia, Cirrhosis, Male infertility, Depression, Nephrolithiasis, Osteoporosis, Exocrine panc... ORPHA:586
Congenital Tracheomalacia
Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou... ORPHA:95430
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Bradycardia, Cardiomegaly, Urinary retention, Abnormal cardiac ... ORPHA:97297
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Imperforate hymen, Bicornuate uterus, Obesity, Small ... OMIM:181450
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Retinal hemorrhage OMIM:608710
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Hypospadias, Accessory spleen, Keloids, Bilateral cryptorchidism, Premature t... OMIM:180849
Williams-Beuren Syndrome
Glucose intolerance, Inguinal hernia, Hypothyroidism, Early onset of sexual maturation, Obesity, ... OMIM:194050
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Yunis-Varon Syndrome
Hypospadias, Absent sternal ossification, Hypertension, Cardiomyopathy, Decreased skull ossificat... ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ... OMIM:613406
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
Cystic Fibrosis
Male infertility OMIM:219700
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Phimosis, Hypospadias ORPHA:75857
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus ORPHA:96191
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ... ORPHA:466677
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity, Pineal cyst ORPHA:529962
Primrose Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Hypothyroidism, Diabetes mellitus, Hip contractu... OMIM:259050
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal hemorrhage OMIM:308300
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Failure to thrive, Abnormality... ORPHA:199
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypospadias, Hypogonadism OMIM:163950
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Failure to thrive, Obesity OMIM:617157
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Abnormal external genitalia, Camptodactyly, Camptodactyly of finger, Obesity, Crypto... OMIM:607872
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Decreased testicular size, Lower limb hypertonia, Obesity, Hypogonadism, Small scrot... OMIM:309580
Pierson Syndrome
Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, S... OMIM:609049
Singleton-Merten Syndrome 1
Osteopenia, Congestive heart failure, Osteolytic defects of the phalanges of the hand, Osteoporos... OMIM:182250
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Aplasia of the upper vagina, Hypospadias, Inguinal hernia, Campt... OMIM:601803
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Truncal obesity, Camptodactyly OMIM:612474
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a... OMIM:175780

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
Spleen - MPATH pathological entity term lymphoid hyperplasia Kdm3aem1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term hypoplasia Kdm3aem1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological process term hyperplasia Kdm3aem1(IMPC)Mbp HOM Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia Kdm3aem1(IMPC)Mbp HOM Early adult
Lymph node - MPATH pathological process term hyperplasia Kdm3aem1(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 Kdm3a.

No publications found that use IMPC mice or data for Kdm3a.

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
Kdm3atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kdm3aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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