Gene Summary

Name:
solute carrier family 13 (sodium-dependent citrate transporter), member 5
Synonyms:
NaC2/NaCT,  mINDY,  Nact,  Indy

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Slc13a5tm1b(EUCOMM)Hmgu HOM   Early adult 9.02×10-08
short tibia Slc13a5tm1b(EUCOMM)Hmgu HOM Early adult 1.32×10-06
abnormal QT variability Slc13a5tm1b(EUCOMM)Hmgu HOM   Early adult 9.25×10-05
increased leukocyte cell number Slc13a5tm1b(EUCOMM)Hmgu HOM   Early adult 6.14×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Electrocardiogram (ECG)

Waveform Image

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Slc13a5 mutations

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

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

The table below shows human diseases associated to Slc13a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty wa... ORPHA:442835
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Amelogenesis imperfecta OMIM:615905
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1946

The table below shows human diseases predicted to be associated to Slc13a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Dysplasia Of Head Of Femur, Meyer Type
Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif... ORPHA:168621
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
3-Methylglutaconic Aciduria Type 1
Dystonia, Hepatomegaly, Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia ORPHA:67046
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Nathalie Syndrome
Abnormal EKG OMIM:255990
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... ORPHA:369
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Jervell And Lange-Nielsen Syndrome
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... ORPHA:90647
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Elevated hepatic transa... OMIM:610717
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Knee flexion contractur... OMIM:619040
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Cirrhosis, Elevated circulating alkal... OMIM:613812
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Recurrent hypo... OMIM:212140
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating alanine am... OMIM:619048
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Failure to thrive, Elevated gamma-glutamyltransferase level, Eleva... OMIM:619484
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Ataxia, Elevated hepatic transami... OMIM:246900
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Toe syndactyly, Bidirectional ventricular ectopy, Prolonged QT interva... OMIM:170390
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... OMIM:256810
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Neutropenia, Atrioventricular block, Anemia, Heart... ORPHA:398124
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... ORPHA:79237
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Elevated hepatic transaminase OMIM:616974
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic ... ORPHA:79301
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Small for gestational age ORPHA:85288
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Hypoxemia, Aplasia/Hypoplasia of the... ORPHA:456312
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia, Failure to thrive ORPHA:67048
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:235555
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dystonia, Hypoglycemia, Failure to thrive ORPHA:289504
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hypoglycemia, Failure to thrive, Ataxia, Hepatic failure, Elevated hepatic transami... ORPHA:2394
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Preeclampsia
Small for gestational age, Increased body mass index, Abnormality of the hepatic vasculature, Typ... ORPHA:275555
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... ORPHA:453533
Tibial Hemimelia
Absent tibia OMIM:275220
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive OMIM:618958
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated hepatic transaminase OMIM:232400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Decreased liver function, Hypoglycemia, Small for gestational age OMIM:615160
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level, Lethargy OMIM:274270
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice ORPHA:890
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Distal arthrogryposis, Hypoglycemia, Decreased liver function, Hepatic st... ORPHA:42
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Ataxia-Telangiectasia
Gait disturbance, Type II diabetes mellitus, Failure to thrive, Ataxia, Diabetes mellitus, Aplasi... ORPHA:100
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hypogonadism, Diabetes... ORPHA:79230
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis, Elevated circulating alanin... OMIM:619386
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp... ORPHA:71212
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Dystonia, Hypoglycemia, Small for gestational age OMIM:614702
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Cholestatic liver disease,... ORPHA:65682
Classic Galactosemia
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like gr... ORPHA:79239
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondria... OMIM:251880
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Prolonged QT interval, Bradycardia OMIM:601005
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Galactosemia
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Decreased serum insulin-like ... ORPHA:352
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure,... OMIM:231100
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:151660
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating alkaline phosph... OMIM:214900
Porphyria Cutanea Tarda
Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Corne... ORPHA:101330
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipide... ORPHA:156
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyroid carcinoma, P... ORPHA:1332
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Abnormal ery... ORPHA:264580
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatos... OMIM:613327
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Cirrhosis, Hepatic failure... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... OMIM:616278
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cyanosis, Impaired gluconeog... OMIM:261680
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Transie... OMIM:255120
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Clubbing of fingers, Atrial fibrillation, Mitral regurgitation, Systoli... ORPHA:99106
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive, Cirrhosis, Elevated circulating aspartate aminotransferase conce... OMIM:617049
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... OMIM:600649
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Pes cavus, Decreased/absent ankle reflexes ORPHA:1177
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Glucose intolerance, Impaired glucose tolerance, Abnormality of the liver, Ele... OMIM:610131
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Calf muscle pseudohypertrophy, ... OMIM:310200
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cog8-Cdg
Elevated hepatic transaminase, Ataxia, Hypoglycemia, Failure to thrive ORPHA:95428
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive, Elevated circulating aspa... OMIM:609015
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Hepatoportal Sclerosis
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... ORPHA:64743
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular ad... ORPHA:79240
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Ivic Syndrome
Leukocytosis, Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of t... ORPHA:2307
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:73272
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease ORPHA:5
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Lethargy OMIM:210200
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Lethargy OMIM:616483
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Joint contracture of the hand, Arthrogryposis multiplex congenita, Ing... ORPHA:352490
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized ... ORPHA:79086
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Hepatocellular carcinoma, Decreased body mass ind... ORPHA:247585
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Lethargy OMIM:201450
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Tricuspid regurgi... OMIM:263520
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Hepatosplenomegaly... ORPHA:96334
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Hypoplasia of the ulna, Triphalangeal thumb, Short clavicle... OMIM:147750
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Elevated gamma-glutamy... ORPHA:567983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... OMIM:616860
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure to thrive, Decreased liver f... OMIM:124000
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Propionic Acidemia
Dystonia, Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Failure to thrive, Pa... OMIM:606054
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Prolonged QTc interval, Pericarditis ORPHA:231111
Congenital Bile Acid Synthesis Defect Type 4
Type II diabetes mellitus, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypog... ORPHA:79095
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Familial Pancreatic Carcinoma
Peritoneal abscess, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosplenome... ORPHA:1333
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Wolcott-Rallison Syndrome
Central hypothyroidism, Hepatomegaly, Abnormality of the liver, Acute hepatic failure, Hypothyroi... ORPHA:1667
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Rett Syndrome
Short foot, Prolonged QTc interval, Abnormal T-wave OMIM:312750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Budd-Chiari Syndrome
Hepatomegaly, Weight loss, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevated hepatic tran... ORPHA:131
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Bangstad Syndrome
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... ORPHA:1227
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Glutaric Acidemia I
Dystonia, Hepatomegaly, Hypoglycemia, Failure to thrive OMIM:231670
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Failure to thrive, Splenomegaly, Hyperactiv... ORPHA:525731
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Hepatic failure, Elevated... ORPHA:159
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Acute hepatic failure, Increased circulating lactate dehydr... ORPHA:99901
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Late-Onset Isolated Acth Deficiency
Lethargy, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Hepatitis, Decreased ... ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Failure to thrive, Bile duct proliferation, Elevated gamma-glutamyltransferase leve... OMIM:618329
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Ck Syndrome
Hyperactivity, Slender build ORPHA:251383
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
Pseudohypoparathyroidism Type 1B
Cortical subperiosteal resorption of humeral metaphyses, Prolonged QT interval, Diaphyseal sclerosis ORPHA:94089
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Areflexia of lower limbs, Pes cavus, Conges... OMIM:229300
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Elevated hepatic transamina... OMIM:212138
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Knee flexion contracture, Hyperactivity, Elevated circulating alkaline phosphata... OMIM:616809
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Prolonged QT interval, Short 5th metacarpal, Short metatarsal, Short fifth ... ORPHA:79444
Ck Syndrome
Hyperactivity, Slender build OMIM:300831
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure OMIM:611126
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Ane... ORPHA:85443
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Reduced phenylalanine hydroxylase level OMIM:261600
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Acute myeloid l... ORPHA:86839
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Failure to thrive, Jaund... ORPHA:90790
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Glucose intolerance, Absence of pubertal devel... ORPHA:785
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Incr... OMIM:182290
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Hypochromic microcytic anemia, Normochromic microc... ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Precocious puberty, Broad-based gait OMIM:300958
Pseudohypoparathyroidism Type 1A
Hypertension, Short 3rd metacarpal, Prolonged QT interval, Short 5th metacarpal, Short metatarsal... ORPHA:79443
Potocki-Lupski Syndrome
Small for gestational age, Hypocholesterolemia, Failure to thrive, Hyperactivity, Hypothyroidism OMIM:610883
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Hepatomegaly, Microvesicular hepatic steatosis, Dystonia, Limb joint contracture, Ling... ORPHA:404454
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Graves disease, Goiter OMIM:275000
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Large for gestational age, Neonatal hypoglycemia ORPHA:457485
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hyperactivity, Hepatic steatosis, Hypothyroid... ORPHA:254346
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Pancreatic... OMIM:276700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, Failure to thrive, Attention deficit hyperactivity dis... ORPHA:485405
Isolated Complex I Deficiency
Hepatomegaly, Hypoglycemia, Failure to thrive, Ataxia, Diabetes mellitus, Lethargy ORPHA:2609
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Failure to thrive... ORPHA:508
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Prolonged QT interval, Talipes equinovarus, Cardiomyopathy, Bundle branch block, ... ORPHA:373
Dextrocardia
Abnormal foot morphology, Abnormality of the spleen, Congenital hip dislocation, Abnormal EKG, T-... ORPHA:1666
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait, Obesity ORPHA:3077
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Limited knee flexion/extension, Pes cavus, Calf muscle hypertrophy, Ri... ORPHA:268
Myopathy With Extrapyramidal Signs
Hepatomegaly, Dystonia, Splenomegaly, Hyperactivity, Ataxia, Elevated hepatic transaminase, Diffi... OMIM:615673
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Failure to thrive, Abnormality of the hypothalamus-pituitary ax... ORPHA:95496
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Lethargy OMIM:210210
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:226307
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Hyperactivity, Abdominal obesity, Gait ataxia, Delayed puberty OMIM:300354
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
Fructose Intolerance, Hereditary
Lethargy, Hepatomegaly, Hypoglycemia, Failure to thrive, Glycosuria, Cirrhosis, Hepatic steatosis... OMIM:229600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Decreased succinic semialdehyde dehydrogenase level OMIM:271980
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Xanthelasma, ... OMIM:232200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Shuffling gait, Cholelithiasis, Hyperactivity, Flexion contracture, Decreased ... OMIM:300534
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Failure to thrive, Weight loss, Fat... ORPHA:275761
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Polydactyly ORPHA:93400
17Q24.2 Microdeletion Syndrome
Upper limb undergrowth, Micrognathia, Prolonged QT interval, Pulmonic stenosis, Abnormality of th... ORPHA:529962
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Hepatocellular Carcinoma
Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hemobilia, Weight loss, Hepatic necrosis, ... ORPHA:88673
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... ORPHA:860
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib