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Gene: Igfbp3 MGI:96438

Gene Summary

Name:

insulin-like growth factor binding protein 3

Synonyms:

IGFBP-3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
shortened QT interval	Igfbp3^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.55×10^-05
abnormal coat/hair pigmentation	Igfbp3^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.16×10^-08
shortened ST segment	Igfbp3^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.78×10^-05
short tibia	Igfbp3^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.04×10^-05
thick ventricular wall	Igfbp3^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.95×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Echo

M-Mode Images

24 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Adult LacZ

LacZ Images Wholemount

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Igfbp3 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.

Human diseases associated with Igfbp3 (0 diseases)
Human diseases predicted to be associated with Igfbp3 (625 diseases)

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

The table below shows human diseases predicted to be associated to Igfbp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc...	ORPHA:435660
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Sk...	ORPHA:435651
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys...	ORPHA:79085
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ...	OMIM:615238
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
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
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Palmoplantar keratoderma, Woolly hair, Ventricular arrhythmia, ...	OMIM:611528
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Maturity-onset diabete...	ORPHA:324575
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Obesity And Hypopigmentation	Hyperinsulinemia, Overgrowth, Polyphagia, Obesity, Hepatic steatosis	OMIM:620195
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h...	ORPHA:276580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Body Mass Index Quantitative Trait Locus 20	Tall stature, Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Diffuse pancreatic...	ORPHA:276575
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Splenomegaly, Proximal upper limb muscle hypertrophy, Hepatic ...	ORPHA:280365
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,...	ORPHA:79084
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh...	ORPHA:276608
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
White Forelock With Malformations	White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Pol...	OMIM:277740
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Muscular Dystrophy, Becker Type	Calf muscle pseudohypertrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Maturity-onset diabetes of the young, Overweight	OMIM:613375
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou...	OMIM:604367
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance	ORPHA:369873
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow...	ORPHA:240
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Large for gestational age, Hepatomegaly, Diffuse pancreatic isl...	ORPHA:276556
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	OMIM:608600
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyper...	ORPHA:363400
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h...	OMIM:610193
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr...	OMIM:606762
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Precocious puberty in femal...	ORPHA:528
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Increased QRS voltage, Left ventri...	OMIM:619040
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P...	ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia...	ORPHA:35878
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Increased intramuscular fat, Hyperinsulinemia, Hepatomegaly, Loss of trunca...	OMIM:151660
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Mody	Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre...	ORPHA:552
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper...	ORPHA:97279
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Agitation, Hyperinsulinemia, Elevated circulati...	ORPHA:263455
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Mandibuloacral Dysplasia	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o...	ORPHA:2457
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Short toe, Type II diabetes mellitus, ...	ORPHA:3085
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome...	ORPHA:79237
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Naxos Disease	Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h...	OMIM:601214
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c...	OMIM:608594
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Aplasti...	OMIM:228900
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Ventricular septal defect...	OMIM:601005
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Perlman Syndrome	Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo...	ORPHA:2849
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty...	OMIM:246200
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Deep-set nails, Microgna...	OMIM:201170
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Hepatic steatosis, Obesity, Type II diabetes mellitus, Insulin resistance, ...	OMIM:615703
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Panniculitis, Generalized lipody...	ORPHA:79086
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Elevated circulating hepatic transami...	OMIM:613327
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Generalized lipodystrophy, Reduced subcuta...	OMIM:612526
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature...	OMIM:614662
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hyperlipidemia, Skeletal muscle atrophy, Lipodystrophy, Abdominal obesity, In...	OMIM:615980
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c...	OMIM:269700
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Bardet-Biedl Syndrome 11	Polydactyly, Obesity, Hypogonadism	OMIM:615988
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Andersen-Tawil Syndrome	Torsade de pointes, Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged Q...	ORPHA:37553
Short Stature, Dauber-Argente Type	Long toe, Decreased fibular diameter, Arachnodactyly, Long fingers, Fasting hyperinsulinemia	OMIM:619489
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous...	OMIM:248370
Insulin-Resistance Syndrome Type B	Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H...	ORPHA:2298
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia	OMIM:222100
Bardet-Biedl Syndrome 9	Polydipsia, Polydactyly, Postaxial hand polydactyly, Polyphagia, Postaxial polydactyly, Obesity, ...	OMIM:615986
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Clinodactyly of the 5t...	OMIM:170390
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology, Type A brachydactyly	ORPHA:1078
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H...	ORPHA:79319
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Deviation of finger, Primary gonadal insufficiency, Abnormality...	ORPHA:1227
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat...	OMIM:610198
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le...	ORPHA:300373
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho...	ORPHA:785
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, First degree atrioventricular block, Achilles tendon contracture, Atrioventric...	OMIM:310300
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Iri...	ORPHA:177910
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Bardet-Biedl Syndrome 5	Polydactyly, Obesity, Syndactyly, Brachydactyly, Hypogonadism	OMIM:615983
Slc35A2-Cdg	Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Hypopigmentation of the skin...	ORPHA:356961
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase...	OMIM:619178
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Bardet-Biedl Syndrome 22	Polydactyly, Large for gestational age, Polyphagia, Obesity, Hypogonadism, Postaxial foot polydac...	OMIM:617119
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d...	ORPHA:79106
Bardet-Biedl Syndrome 10	Polydactyly, Obesity, Hypogonadism	OMIM:615987
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f...	OMIM:602579
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Temple Syndrome	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Polyphagia...	ORPHA:254516
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Obesity, Failure to thrive in infancy, Mo...	OMIM:613670
Mehmo Syndrome	Agitation, Obesity, Diabetes mellitus, Tapered finger, Talipes equinovarus	ORPHA:85282
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran...	ORPHA:94086
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block...	ORPHA:398124
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Neonatal hypoglycemia, Genu valgum, Anterior hypopituitarism, Prolonged neonatal...	ORPHA:631
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr...	ORPHA:251274
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Displacement of the papillary muscl...	ORPHA:1329
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ...	OMIM:616329
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Abnormal eyebrow morphology, Hip disloca...	ORPHA:1106
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Bulging...	OMIM:600785
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Radial deviation of finger, Syndactyly, Clinodactyly, Adre...	OMIM:176270
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Bardet-Biedl Syndrome 2	Postaxial hand polydactyly, Obesity, Hypogonadism, Diabetes mellitus, Postaxial foot polydactyly	OMIM:615981
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618858
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Short foot, Pre...	OMIM:616222
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Macroglossi...	OMIM:614450
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Patent foramen ovale, Short ribs, Short humerus...	OMIM:607143
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali...	ORPHA:860
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Proximal amyotrophy, Hyperglycemia	OMIM:604484
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Pes cavus, Abnormal EKG, Decreased/absent ankle reflexes	ORPHA:1177
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Polyphagia, Hypogonadism	OMIM:614962
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra...	ORPHA:71212
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Hypopigmentation of hair, Alopecia	ORPHA:1067
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ...	ORPHA:69663
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:606176
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri...	ORPHA:26793
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Multiple Endocrine Neoplasia Type 1	Hematemesis, Melena, Hypertension, Large cafe-au-lait macules with irregular margins, Shortened Q...	ORPHA:652
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Hypercholesterolemia, Hyperglycemia, Type II diabetes mellitus, Abdominal o...	OMIM:615812
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Inguinal hernia, Postaxial hand polydactyly, 3-4 finger...	OMIM:175700
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Clinodactyly, Obesity, Hypercholesterol...	ORPHA:254531
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced os...	OMIM:614613
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl...	ORPHA:2089
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Alstrom Syndrome	Polydactyly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperin...	OMIM:203800
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	ORPHA:189427
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Abno...	ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Wild Type Attr Amyloidosis	Congestive heart failure, Pedal edema, Bradycardia, Atrial fibrillation, Decreased/absent ankle r...	ORPHA:330001
Rabson-Mendenhall Syndrome	Polydipsia, Polydactyly, Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovari...	ORPHA:769
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas...	ORPHA:79240
Laurence-Moon Syndrome	Finger syndactyly, Hand polydactyly, Obesity, Congenital hepatic fibrosis, Type II diabetes melli...	ORPHA:2377
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Leprechaunism	Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Inc...	ORPHA:508
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u...	ORPHA:1501
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618857
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he...	ORPHA:264580
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Hepatomegaly, Cone-shaped epiphyses of the phalanges of the hand, Postaxial hand pol...	OMIM:615630
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Atrioventricular canal defect, Thick hair, Cone-shaped epiphyses of the phal...	ORPHA:2751
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re...	OMIM:300888
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicu...	ORPHA:465508
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Knee flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hy...	OMIM:310200
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Obesity, Hypogonadism, Clinodactyly	OMIM:615984
Tibial Hemimelia	Absent tibia	OMIM:275220
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Obesity, Syndactyly, Attention deficit hyperactivity disorder, Ta...	OMIM:618725
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, S...	ORPHA:53271
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F...	OMIM:616300
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Ventr...	OMIM:258315
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp...	OMIM:615830
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Combined Oxidative Phosphorylation Deficiency 54	Lower limb muscle weakness, Hyperglycemia, Obesity, Hypergonadotropic hypogonadism	OMIM:619737
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Toe syndactyly, Obesity	ORPHA:217377
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Increased body weight, Short pal...	OMIM:182290
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Rett Syndrome	Prolonged QTc interval, Short foot, Abnormal T-wave	OMIM:312750
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Bilateral talipes equinovarus, Obesity, Self-mutilation, Aggressive behavior	OMIM:616521
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Prolonged QT interval, Sparse scalp hair, Pulmonary arterial hypert...	OMIM:620029
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for...	OMIM:148820
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypoplastic iliac wi...	ORPHA:96334
Danon Disease	Congestive heart failure, Pes cavus, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhyth...	OMIM:300257
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Cardiac myxoma, Profuse pigme...	OMIM:160980
Bardet-Biedl Syndrome 4	Polydactyly, Obesity, Syndactyly, Brachydactyly, Hypogonadism	OMIM:615982
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased i...	ORPHA:681
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Pericarditis, Pericardial effusion	ORPHA:231111
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Dysbetalipoproteinemia	Hypertriglyceridemia, Tendon xanthomatosis, Xanthelasma, Hepatomegaly, Acute pancreatitis, Hypoth...	ORPHA:412
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98855
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Polyphagia, Impulsivity, Camptodactyly, Short foot, Skin-pick...	OMIM:615547
Short Syndrome	Lipoatrophy, Radial deviation of finger, Inguinal hernia, Reduced subcutaneous adipose tissue, Ab...	OMIM:269880
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Clinodactyly, Obe...	ORPHA:96184
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Obesity, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Delayed puberty, EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in mus...	ORPHA:486815
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis	ORPHA:94089
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Impulsivity, Attention...	ORPHA:589905
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ...	OMIM:600430
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Upper limb undergrowth, Abnormality of the ankle, Synophrys, Pulmonic sten...	ORPHA:529962
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Atypical Werner Syndrome	Delayed puberty, Rocker bottom foot, Hypertriglyceridemia, Lipoatrophy, Calf muscle hypertrophy, ...	ORPHA:79474
Summitt Syndrome	Short 4th metacarpal, Tall stature, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3210
Retinitis Pigmentosa	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypopigmentatio...	ORPHA:70472
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Obesity, Diabetes mellitus, Syndactyly	OMIM:605231
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Short metacarpal, Pseudohypoparathyroidism, Obesi...	OMIM:603233
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm...	ORPHA:999
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98863
Congenital Heart Defects, Multiple Types, 9	Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri...	OMIM:620294
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98853
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Congenital hypothyroidism	ORPHA:88643
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ...	OMIM:203300
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Synostosis of carpal bones, Biliary tract abnormality, Obesity, Type II diabetes...	ORPHA:3191
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pes cavus, Limited knee flexion/extension, Reduced left ventricular ejection fraction, Calf muscl...	ORPHA:268
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Abnorma...	ORPHA:174
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Absent...	ORPHA:226313
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism	OMIM:610628
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Short fifth metatarsal, Broad dist...	ORPHA:79444
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Inguinal hernia, Diastasis recti, Cholestasis, Portal hyp...	ORPHA:440713
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Prolonged QT interval, Clinodactyly of the 5th finger, Small nail, Short 2nd fing...	ORPHA:373
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona...	ORPHA:2234
Dextrocardia	Situs inversus totalis, Abnormal foot morphology, Dextrocardia, Congenital hip dislocation, Abnor...	ORPHA:1666
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Impaired glucose tolerance, Obesity, Pituitary adenoma, Skeletal ...	OMIM:219090
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval	ORPHA:66634
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hypothyroidism, Obesity, Abnormality of the thyroid gland, D...	ORPHA:77296
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia, Oral aversion	ORPHA:134
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:616026
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Facial diplegia, Abnormality of the tong...	ORPHA:273
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Reduced subcutaneous adipose tissue...	OMIM:609069
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Telangiectasia ...	ORPHA:100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Obesity, Type II diabetes mellitus	OMIM:618620
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Obesity, Hypogonadism	OMIM:615985
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Ab...	OMIM:615710
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Polysplenia, Broad thumb...	ORPHA:65759
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Overweight, Hypercholesterolemia, Tapered finger, Small hand	ORPHA:401923
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Short fifth metatarsal, Hypertensi...	ORPHA:79443
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hyperconvex fingernails, Hypertension, Low posterior hairline, Abnormal fo...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Hyperconvex fingernails, Hypertension, Low posterior hairline, Abnormal fo...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Hyperconvex fingernails, Hypertension, Low posterior hairline, Abnormal fo...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hyperconvex fingernails, Hypertension, Low posterior hairline, Abnormal fo...	ORPHA:99226
Solitary Fibrous Tumor	Pelvic mass, Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia...	ORPHA:2126
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Preaxial polydactyly, Hepatomegaly, Hyperactivity, Stereotypical hand w...	ORPHA:163681
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Friedreich Ataxia	Pes cavus, Congestive heart failure, Areflexia of lower limbs, Hypertrophic cardiomyopathy, Abnor...	OMIM:229300
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Congenital Sialidosis Type 2	Polydactyly, Generalized hypertrichosis, Abnormal heart morphology, Abnormal EKG, Telangiectasia	ORPHA:93400
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal cardiac ventricle morphology, Monoclonal light chain cardia...	ORPHA:85443
Squalene Synthase Deficiency	Slender long bone, 2-3 toe syndactyly, Abnormality of hair pigmentation, Micrognathia, Knee flexi...	OMIM:618156
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Skeletal muscle hypertrophy, Tibial bowing, Forearm u...	ORPHA:314795
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight, Bulimia	OMIM:614651
Hamamy Syndrome	Abnormal number of hair whorls, Atrial septal defect, Clinodactyly of the 5th finger, Short 2nd f...	OMIM:611174
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Hyperinsulinemia, Clinodactyly, Elevated circulating th...	OMIM:620185
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Brachyd...	OMIM:612463
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Self-m...	ORPHA:412035
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Hypoplastic fingernail, Rhizomelia, Clinodactyl...	OMIM:228520
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Increased body weight, Polyp...	ORPHA:398069
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Cerebral Creatine Deficiency Syndrome 1	Pes cavus, Prolonged QT interval	OMIM:300352
Senior-Loken Syndrome 9	Polydactyly, Cholestasis, Hypoplasia of the femoral head, Obesity, Hypogonadism, Hepatic fibrosis	OMIM:616629
Aromatase Deficiency	Tall stature, Genu valgum, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogon...	ORPHA:91
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615453
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Short foot, Cent...	ORPHA:398079
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Sotos Syndrome	Neonatal hypoglycemia, Genu valgum, Tall stature, Increased body weight, Overgrowth, Prolonged ne...	OMIM:117550
Brittle Cornea Syndrome	Hallux valgus, Abnormality of hair pigmentation, Camptodactyly, Pulmonic stenosis, Arachnodactyly...	ORPHA:90354
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	2-3 toe syndactyly, Increased body weight, Broad hallux, Self-injurious behavior, Short foot, Agg...	OMIM:300860
45,X/46,Xy Mixed Gonadal Dysgenesis	Nail dysplasia, Short 4th metacarpal, Bicuspid aortic valve, Prolonged QT interval, Short metatar...	ORPHA:1772
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli...	ORPHA:3464
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriate antidiuretic hormo...	ORPHA:226307
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Occipital Horn Syndrome	Abnormal fibula morphology, Humerus varus, Genu valgum, Thick hair, Large iliac wing, Abnormal pu...	ORPHA:198
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr...	ORPHA:79102
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep...	ORPHA:209902
Griscelli Syndrome Type 2	Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79477
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,...	OMIM:103580
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce...	ORPHA:99832
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Brittle Cornea Syndrome 1	Palmoplantar cutis laxa, Red hair, Mitral valve prolapse, Congenital hip dislocation	OMIM:229200
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Bardet-Biedl Syndrome 1	Radial deviation of finger, Truncal obesity, Postaxial hand polydactyly, Nephrogenic diabetes ins...	OMIM:209900
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, F...	ORPHA:99885
Bardet-Biedl Syndrome 17	Polydipsia, Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatars...	OMIM:615994
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Phocomelia, Schinzel Type	Nail dysplasia, Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abno...	ORPHA:2879
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Genu valgum, Hepatomegaly, Cholelithiasis, Broad long bone diaphyses, Broad metacarpals, Precocio...	OMIM:301066
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminot...	OMIM:227810
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Slender long bone, Sparse eyebrow, Micrognathia, Sparse hair, Mitral valv...	ORPHA:444072
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdominal wall musc...	OMIM:267000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Diastasis recti, Overgrowth, Omphalocele, Umbilical hernia, Small for ...	ORPHA:254534
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte...	OMIM:164745
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Ascites, Hyperglycemia, Peritonitis, Small for gestational age	ORPHA:391673
Noonan Syndrome	Clinodactyly of the 5th finger, Abnormal pulmonary valve morphology, Abnormal hair quantity, Low ...	ORPHA:648
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Abnormal toenail morphology, Preaxial foot ...	ORPHA:1827
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Absent nipple, Missing ribs, Rudime...	OMIM:200980
Dpagt1-Cdg	Prolonged QT interval, Camptodactyly, Arachnodactyly, Intracranial hemorrhage, Clinodactyly, Hype...	ORPHA:86309
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o...	OMIM:208500
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Inguinal hernia, Pancreatic hypoplasia, Aplasia...	OMIM:600001
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona...	ORPHA:99889
Cushing Disease	Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype...	ORPHA:96253
Hydrolethalus Syndrome 1	Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi...	OMIM:236680
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Syndromic Diarrhea	Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h...	ORPHA:84064
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Hepatomegaly, Recurrent hand flapping, Compulsive behaviors, ...	ORPHA:3008
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascula...	ORPHA:247691
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Macroglossia	OMIM:616260
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Clinodactyly of the 5th finger, Hypopigmentation of hair, Finger syndactyly, Short foot...	ORPHA:1974
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega...	OMIM:619991
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Prader-Willi Syndrome Due To Translocation	Clinodactyly of the 5th finger, Hypopigmentation of hair, Hyperpigmentation of the skin, Patent f...	ORPHA:177907
Cole Disease	Hyperglycemia	OMIM:615522
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Hypoglycemia	OMIM:620423
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t...	ORPHA:140
Sheehan Syndrome	Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism...	ORPHA:91355
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Friedreich Ataxia 2	Pes cavus, Congestive heart failure, Hammertoe, Concentric hypertrophic cardiomyopathy, Muscular ...	OMIM:601992
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Thin nail, Slo...	OMIM:218330
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr...	ORPHA:2235
Distal Deletion 12Q	Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Clinodactyly ...	ORPHA:96149
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ...	ORPHA:54595
Dend Syndrome	Hyperglycemia, Clinodactyly of the 4th finger	ORPHA:79134
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopat...	ORPHA:79430
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal cardiac septum morphology, Abnormality of hair texture, Arachn...	ORPHA:96169
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Precocious pu...	OMIM:619269
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Abnormal heart morphology, Fibular hypoplasia, Patent foramen ovale, Pulmo...	ORPHA:444077
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Rhabdomyosarcoma, Tall stature, Enlarged kidney, Splenomegaly, U...	ORPHA:116
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene...	ORPHA:3322
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Gaisböck Syndrome	Hypertriglyceridemia, Increased circulating renin level, Diabetes mellitus, Obesity, Overweight, ...	ORPHA:90041
Degcags Syndrome	Premature graying of hair, Hypopigmentation of the skin, Low posterior hairline, Pulmonic stenosi...	OMIM:619488
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of...	OMIM:214500
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Abdominal mass, Obesity, Hypogonadism, Postaxial foot po...	OMIM:615989
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Vici Syndrome	Congestive heart failure, Atrial septal defect, Hypopigmentation of hair, Cardiomyopathy, Hypopig...	OMIM:242840
Congenital Analbuminemia	Hyperlipidemia, Obesity, Lipodystrophy, Hypercholesterolemia, Small for gestational age	ORPHA:86816
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Wid...	OMIM:304120
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,...	OMIM:232300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Limitation of move...	ORPHA:98794
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, 2-3 toe syndactyly, Postax...	OMIM:619471
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Impaired fasting glucose, Elevated circula...	ORPHA:110
Alternating Hemiplegia Of Childhood	Skewfoot, Cardiomyopathy, Cardiac conduction abnormality, Thin eyebrow, Arrhythmia, Abnormal T-wave	ORPHA:2131
Menkes Disease	Abnormal metaphysis morphology, Gastrointestinal hemorrhage, Tarsal synostosis, Hypopigmentation ...	ORPHA:565
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplasia of the radius, Triphalangeal ...	ORPHA:233
Charge Syndrome	Hypoplasia of the ulna, Atrial septal defect, Absent tibia, Hand monodactyly, Pulmonic stenosis, ...	OMIM:214800
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Rhizomelia, Proximal placement of thumb, Hypopigmentation of hair,...	ORPHA:818
Prader-Willi Syndrome	Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Hip dysplasia, Short foot, ...	ORPHA:739
Woodhouse-Sakati Syndrome	Fine hair, Abnormal T-wave, Sparse hair, Alopecia	OMIM:241080
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol...	ORPHA:79318
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Hypopigmentation of hair, Arachnodactyly, Iris hypopigmentation, Ocula...	ORPHA:2719
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Synophrys, Micrognathia, Mesomelia, Hype...	OMIM:619297
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failu...	OMIM:220111
1P21.3 Microdeletion Syndrome	Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior	ORPHA:293948
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr...	ORPHA:167
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Carney Complex	Thyroid carcinoma, Tall stature, Increased circulating insulin-like growth factor 1 concentration...	ORPHA:1359
African Trypanosomiasis	Myocarditis, Congestive heart failure, Alopecia, Pericarditis, Arrhythmia, Third degree atriovent...	ORPHA:3385
Cystinosis, Nephropathic	Genu valgum, Hypopigmentation of hair, Hypopigmentation of the skin, Metaphyseal widening, Retina...	OMIM:219800
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia, Peritonitis	ORPHA:2968
Hellp Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:244242

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.

There is no histopathology data for Igfbp3

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 Igfbp3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a β1-Integrin Pathway.	Cellular and molecular gastroenterology and hepatology (May 2020)	Igfbp3^{tm1(KOMP)Vlcg}	PMC7399184
Insulin-Like Growth Factor Binding Protein-3 Deficiency Leads to Behavior Impairment with Monoaminergic and Synaptic Dysfunction.	The American journal of pathology (January 2017)	Igfbp3^{tm1(KOMP)Vlcg}	28088287

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Igfbp3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Igfbp3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Igfbp3^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Igfbp3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Igfbp3 MGI:96438

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

X-ray

X-ray

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Igfbp3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data