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Gene: Arv1 MGI:1916115

Gene Summary

Name:

ARV1 homolog, fatty acid homeostasis modulator

Synonyms:

1110067L22Rik

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
decreased heart rate	Arv1^em1(IMPC)J	HOM	Early adult	2.85×10^-05
increased grip strength	Arv1^em1(IMPC)J	HOM	Early adult	8.81×10^-06
prolonged RR interval	Arv1^em1(IMPC)J	HOM	Early adult	2.80×10^-05
hyperactivity	Arv1^em1(IMPC)J	HOM	Early adult	1.04×10^-27
decreased bone mineral density	Arv1^em1(IMPC)J	HOM	Early adult	6.82×10^-06
increased thigmotaxis	Arv1^em1(IMPC)J	HOM	Early adult	8.38×10^-05
abnormal auditory brainstem response	Arv1^em1(IMPC)J	HOM	Early adult	1.76×10^-10

Download data as: TSV XLS

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Viewing: all phenotypes

X-ray

XRay Images Whole Body Lateral Orientation

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Auditory Brain Stem Response

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

7 Images

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Human diseases caused by Arv1 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 Arv1 (2 diseases)
Human diseases predicted to be associated with Arv1 (802 diseases)

The table below shows human diseases associated to Arv1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Non-Specific Early-Onset Epileptic Encephalopathy		Impulsivity, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Attention deficit ...	ORPHA:442835
Developmental And Epileptic Encephalopathy 38		Irritability, Hypsarrhythmia	OMIM:617020

The table below shows human diseases predicted to be associated to Arv1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment	OMIM:614896
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ...	ORPHA:71529
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the youn...	ORPHA:324575
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Im...	ORPHA:329249
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Abnormality of body we...	ORPHA:314811
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul...	ORPHA:276575
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased c...	ORPHA:276556
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Large for gestational age, Abnormal oral glucose tolerance, Hyper...	ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Schizophrenia 15	Hyperactivity	OMIM:613950
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia, Sensorineural hearing impairment	OMIM:609924
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Splenomegaly, Cloni...	OMIM:610539
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti...	OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregul...	OMIM:615238
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ...	ORPHA:314802
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, EEG abnormality, Bradycardia, Hypertrophic cardiomyo...	OMIM:618815
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R...	OMIM:262400
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Short stature	ORPHA:366
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, Seizure, Gas...	OMIM:610883
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Dysphagia	OMIM:620265
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Obesity Due To Sim1 Deficiency	Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyp...	ORPHA:369873
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Diarrhea, Decreased LDL cholesterol concentratio...	OMIM:246700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper...	OMIM:301008
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo...	OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia	OMIM:619970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra...	ORPHA:280365
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr...	ORPHA:96180
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva...	ORPHA:542306
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment	OMIM:616277
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul...	OMIM:614962
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R...	ORPHA:363400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A...	OMIM:300148
Galactokinase Deficiency	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Hypog...	ORPHA:79237
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Chorea, Weight loss, Seizure, ...	ORPHA:399
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Generalized-onset seizure, Hyperg...	OMIM:212065
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t...	OMIM:266510
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Cln3 Disease	Aggressive behavior, Optic atrophy, Depression, T-wave inversion, Bradycardia, Dysphagia	ORPHA:228346
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardati...	ORPHA:73272
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia, Short stature, Hyperlipidemia, Growth delay, Delayed puberty, Hypertrophic cardiomy...	ORPHA:369
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac...	OMIM:618156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Shor...	OMIM:612526
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hypertrophic cardiomyopathy, Hearing impairment, Aggressive behavior	OMIM:620270
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Tetanus	Tachycardia, Stiff neck, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology,...	ORPHA:3299
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreati...	ORPHA:276608
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Ravine Syndrome	Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Impaired proprioception, Steatorrh...	ORPHA:71
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Progressive hearing impairment, Bradycardia, Dysphagia, Arrhythmia	OMIM:609286
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In...	OMIM:610947
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ...	OMIM:616834
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt...	ORPHA:35878
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Hyperprolinemia, Type I	EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalanin...	OMIM:619048
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ...	ORPHA:330001
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Glycogen Storage Disease Iii	Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, Hyperlipidemia, ...	OMIM:232400
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,...	ORPHA:14
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia	OMIM:609016
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased c...	OMIM:615962
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Trimethylaminuria	Hypertension, Tachycardia, Depression	OMIM:602079
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
2P21 Microdeletion Syndrome	Hypoglycemia, Growth delay, Long eyelashes, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm...	ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Adre...	OMIM:619386
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Intrauter...	ORPHA:26792
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	EEG with burst suppression, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycar...	OMIM:614498
Endocardial Fibroelastosis	Hypoglycemia, Congestive heart failure, Cryptorchidism, Restrictive cardiomyopathy, Anterior hypo...	ORPHA:2022
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,...	ORPHA:3077
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior...	OMIM:300438
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu...	OMIM:615160
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Prominent antihelix, Joint contracture of the 5th finger, Bradycardia, Ma...	OMIM:614407
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Depression, Abnormal glos...	ORPHA:221098
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Laron Syndrome	Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed...	ORPHA:633
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior	ORPHA:208441
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment, Aggressive behavior	OMIM:248510
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Scarring, Foot joint contracture, Diarrhea, ...	ORPHA:90321
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Illum Syndrome	Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Short stature	ORPHA:364
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Abnormal repetitive...	OMIM:619470
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Decreased b...	ORPHA:231140
Secondary Short Bowel Syndrome	Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyro...	ORPHA:95427
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Impulsivity, Cryptorchidism, Flexion contracture, Ob...	OMIM:615547
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ...	ORPHA:261229
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:95717
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia	ORPHA:177910
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Anorexia, Myocardial infarction, Increa...	ORPHA:95409
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Elevated circulating branched chain amino acid concentrati...	ORPHA:2394
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Leyd...	ORPHA:361
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Bardet-Biedl Syndrome 22	Obesity, Hypogonadism, Polyphagia, Large for gestational age	OMIM:617119
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul...	ORPHA:263455
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:42
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, Obesity, Seizure, Inappropriate laughter, Polyphagia	ORPHA:411515
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Hypoglycemia, Long eyelash...	ORPHA:48431
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Shor...	OMIM:618120
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood ur...	ORPHA:251004
Congenital Generalized Lipodystrophy	Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Lipodystrophy, Adipose ti...	ORPHA:528
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P...	ORPHA:79159
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Proportionate ...	ORPHA:391408
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterine growth retardation, Failure to thrive	OMIM:618958
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ...	ORPHA:199299
Glutamine Deficiency, Congenital	Flexion contracture, Bradycardia, Low-set ears, Camptodactyly	OMIM:610015
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Lennox-Gastaut Syndrome	EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior	ORPHA:2382
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas...	OMIM:614817
Bardet-Biedl Syndrome 9	Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia	OMIM:614702
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
2Q23.1 Microdeletion Syndrome	Hyperactivity, Short stature, Highly arched eyebrow, Abnormal repetitive mannerisms, Cryptorchidi...	ORPHA:228402
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Hypoglycemia	ORPHA:67048
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa...	ORPHA:85138
Angelman Syndrome	Vomiting, Gastroesophageal reflux, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, Con...	ORPHA:72
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythmia, Brady...	OMIM:220120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Hypoglycemia, Dysmenorrhea, Postnatal growth retardat...	ORPHA:397590
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w...	OMIM:261740
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Flexion contracture, Osteopo...	OMIM:613327
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail...	ORPHA:2089
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Hyperprolinemia, Cardiomyopathy, Agitation, Hyperalaninemia, Failure to...	OMIM:619046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,...	ORPHA:769
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Hypoglycemia, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Par...	ORPHA:391428
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:246900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital femoral epiphysis	ORPHA:226313
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypogonadotr...	ORPHA:398079
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno...	ORPHA:525731
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating renin level, Premature adrenarche, Hy...	ORPHA:90791
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation, Fine hair, ...	ORPHA:231137
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Seizure, Hypocholesterolemia	OMIM:618810
Magel2-Related Prader-Willi-Like Syndrome	Flexion contracture, Increased body weight, Compulsive behaviors, Hypothalamic luteinizing hormon...	ORPHA:398069
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa...	OMIM:613845
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Bradycardia, Sensorineural hearing impairment	ORPHA:95716
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Posteriorly rotated ears, Aganglionic megacolon, Flexion contracture, Cupped ear, In...	OMIM:613870
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti...	OMIM:618718
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hypoglycemia, Hyperammonemia	ORPHA:35
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, Congenital foot contractu...	ORPHA:565624
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Seizure, Increased blood...	OMIM:235400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:264580
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan...	ORPHA:263501
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Agg...	OMIM:619075
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Abnormal ovarian physiology, Prematu...	ORPHA:90794
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Hyperinsulinemia, Pancreat...	OMIM:246200
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Hyperammonemia, Dysphagia, Sparse hair, Intrauterine gro...	OMIM:618253
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic cardiomyop...	ORPHA:156
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Premature adrenarche, Short stature, Preco...	ORPHA:739
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Seizure, Agitation, Cholecystitis, I...	ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Abnormal repetitive mannerisms, Heart murmur, Attention deficit hyperactivity diso...	OMIM:617600
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Polyphagia	ORPHA:163690
Acitretin/Etretinate Embryopathy	Cupped ear, Microtia, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural h...	ORPHA:40366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
6Q16 Microdeletion Syndrome	Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem...	OMIM:616113
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta...	OMIM:613986
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia...	ORPHA:79474
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Stiff Skin Syndrome	Lipoatrophy, Short stature, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid c...	ORPHA:2833
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Fac...	OMIM:620141
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease...	ORPHA:33543
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Growth delay, Hyperglycinemia, Intrauterine growth retardation, Failure to thrive, ...	OMIM:245400
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per...	ORPHA:206443
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio...	OMIM:261990
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Short statu...	OMIM:176270
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Elevated circulating creatinine con...	ORPHA:230
Pyridoxine-Dependent Epilepsy	Restlessness, Hypoglycemia	ORPHA:3006
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron, Abnormality of ...	OMIM:231100
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Congestive heart failure, Hyperammonemia, Car...	OMIM:212140
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir...	OMIM:618838
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia	OMIM:613027
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosis, Bradycardia,...	OMIM:620351
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Glycogen Storage Disease Ixb	Growth delay, Hypoglycemia, Hyperuricemia, Short stature	OMIM:261750
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	ORPHA:70
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff...	OMIM:617575
Cebalid Syndrome	Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol...	ORPHA:189427
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Short stature, Adrenal hypoplasia, ...	ORPHA:95496
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Seizure, Hypomagnesem...	OMIM:223360
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ...	ORPHA:786
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuricemia, Hypo...	ORPHA:134
Propionic Acidemia	Hypoglycemia, Short stature, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinem...	OMIM:606054
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Cryptorchidism, Fine hair, Growth delay, Recurrent hypo...	OMIM:616817
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Reduced circulating transferrin concentration, Chronic diarrhea, Intestin...	ORPHA:90363
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-phary...	OMIM:616878
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Obesity, Type II diabetes mellitus, Arrhythmia, Abnormal circulat...	ORPHA:3191
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonem...	ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Fanconi-Bickel Syndrome	Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Growth delay, Glycosuria, Fa...	ORPHA:2088
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ...	ORPHA:397941
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina...	ORPHA:26793
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:289548
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hype...	OMIM:251000
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79444
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia	OMIM:620137
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem...	ORPHA:90790
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr...	ORPHA:168558
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Joint stiffness, Aggressive behavior, Asymmetric septal hypertrophy, Dense calvari...	OMIM:252920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia	OMIM:610768
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Trisomy 18P	Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Attention deficit hyperactivity d...	ORPHA:1715
Smith-Kingsmore Syndrome	Curly hair, Hypoglycemia, Rhizomelia, Large for gestational age, Cryptorchidism, Umbilical hernia	OMIM:616638
Luscan-Lumish Syndrome	Short stature, Aggressive behavior, Irregular menstruation, Obesity, High anterior hairline, Poly...	OMIM:616831
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk...	OMIM:600430
Dubowitz Syndrome	Hyperactivity, Inguinal hernia, Chronic diarrhea, Gastroesophageal reflux, Hypocholesterolemia, E...	OMIM:223370
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick...	ORPHA:2126
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hyperactivity, Aggressive behavior, Macrotia, Depression, Hypertension, Irritabilit...	ORPHA:449291
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A...	ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Hypsarrhythmia, Congenital contracture, Arthrogryposis mu...	OMIM:618397
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Multifocal seizures, Ataxia, Elevated circulating creatine kinase ...	ORPHA:480864
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Hypoglycemia, Aggressive behavior, Cardiomyopathy, Intrauterine growth re...	OMIM:617710
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Sudden cardiac death, Elevated circulating acylcarnitine concentration, ...	ORPHA:99901
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Hypertension, Bradyc...	OMIM:614653
Neurodevelopmental Disorder With Or Without Autism Or Seizures	EEG with burst suppression, Hyperactivity, Pulmonic stenosis, Hypsarrhythmia	OMIM:619239
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos...	ORPHA:404454
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Bradycardia, Attention deficit hyperactivity di...	ORPHA:90674
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Short stature	OMIM:248360
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Short stature, Large for gestational age, Glycosur...	OMIM:616026
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe, Joint hypermobility	OMIM:300143
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ab...	ORPHA:94093
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry...	ORPHA:261529
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Glycogen Storage Disease Ia	Hypoglycemia, Short stature, Hyperlipidemia, Growth delay, Xanthelasma, Hypertension, Hyperuricem...	OMIM:232200
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:619518
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Irritability, Joint contracture, Optic atrophy	OMIM:616881
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Short stature, Cr...	OMIM:617053
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Ataxia, Stomatitis, Diarrhea, Thyroiditis, Steatorrhea, Weight los...	OMIM:212750
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Gastroesophageal reflux, Inappropr...	OMIM:156200
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci...	ORPHA:79303
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Epistaxis, Short stature, Hyperlipidemia, Irregular menstruat...	ORPHA:79259
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Seizure, Chol...	OMIM:270400
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Constipation, Hypocholesterolemia	OMIM:244450
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept...	ORPHA:163681
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Postnatal growth retardation, Hypophosphatemia...	OMIM:227810
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture...	OMIM:193700
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ...	ORPHA:49041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Elevated circulating creatinine concentration, Gastroesophageal reflux, Vomiting, Const...	OMIM:223900
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypert...	ORPHA:206572
Leprechaunism	Reduced subcutaneous adipose tissue, Facial hypertrichosis, Postnatal growth retardation, Insulin...	ORPHA:508
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Vomiting, Decreased...	OMIM:606721
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Tachycardia, Hypoglycemia, Elevated circulating cre...	OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc...	OMIM:201400
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Cryptorchidism, Obesity, Congenital hypothyroidism, Red hair, M...	OMIM:614613
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive	OMIM:615453
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr...	OMIM:619055
Lujo Hemorrhagic Fever	Shock, Stiff neck, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia	ORPHA:319213
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Postnatal growth retardat...	OMIM:617093
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Severe...	OMIM:609069
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Joint stiffness, Asymmetric septal hypertrophy, Dense calvaria, Hearing impairment	OMIM:252900
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Angina pectoris, Hypoglycemia, Cachexia, Short stature, Telangiec...	ORPHA:109
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Anorexia, Abnormal left ventricular function, Internal hemorrhag...	ORPHA:99827
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Hypoglycemia, Hyperammonemia	OMIM:616483
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Short stature...	OMIM:614008
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten...	ORPHA:79155
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b...	OMIM:274150
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Thick eyebrow, Short stature, Decreased response to growth hormone stimulation test, Fasting hypo...	ORPHA:436174
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral cryptorchidism, Repetitive compulsive behavior, Dilated cardiomy...	ORPHA:66634
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation	OMIM:620275
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Encephalitis Lethargica	Stiff neck, Bradycardia	ORPHA:83600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Sensorineural hearing impairment	OMIM:221400
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hyperactivity, Large for gestational age, Cryptorchidism, Neonatal hypoglycemia	ORPHA:457485
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Short stature, Intrauterine growth retardation, Joint contracture, Failure to thriv...	OMIM:618005
Silver-Russell Syndrome	Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty, Cryptorchidism, Insuli...	ORPHA:813
Wagro Syndrome	Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia, Decrease...	OMIM:612469
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi...	ORPHA:348
Leigh Syndrome	Alopecia, Multiple joint contractures, Hypoglycemia, Frontal hirsutism, Congestive heart failure,...	ORPHA:506
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia	ORPHA:31150
Premature Ovarian Failure 13	Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen...	OMIM:617442
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
Tenorio Syndrome	Hypoglycemia, Raynaud phenomenon, Syncope, Hypoinsulinemia, Thick eyebrow, Hypertrichosis	OMIM:616260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypoglycemia, Rhizomelia, Cryptorchidism, Hypocalcemia, Failure to thrive	OMIM:607143
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Hyper...	ORPHA:2609
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Chronic constip...	ORPHA:404448
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, Congestive heart...	OMIM:608779
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Alopecia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Hypothyroidism Due To Tsh Receptor Mutations	Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:90673
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan...	ORPHA:98908
Glycogen Storage Disease Ib	Hypoglycemia, Short stature, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Delayed pu...	OMIM:232220
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Insulin-Like Growth Factor I Deficiency	Osteopenia, Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:154230
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, Aggressive behavior, Postnatal growth retardation, Crypt...	ORPHA:251028
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decrease...	ORPHA:909
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia	OMIM:231670
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Supernumerary nipple, Aggressive behavior, Contracture of the proximal interphalang...	ORPHA:457279
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618329
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Joint stiffness, Asymmetric septal hypertrophy, Dysphagia, Dense calvaria, Hearing...	OMIM:252930
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Hypog...	ORPHA:137675
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p...	ORPHA:740
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Sotos Syndrome	Aggressive behavior, Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, ...	OMIM:117550
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Primary amenorrhea, Growth dela...	OMIM:619418
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab...	OMIM:610042
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Sudden cardiac death...	OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin...	OMIM:609152
Hereditary Renal Hypouricemia	Hypouricemia, Vomiting, Nausea, Increased blood urea nitrogen	ORPHA:94088
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A...	OMIM:256040
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad...	OMIM:615577
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ...	ORPHA:94059
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Tonic seizure, Abnormal rep...	OMIM:615873
Shashi-Pena Syndrome	Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, ...	OMIM:617190
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Insulin resistance, Dilated ca...	OMIM:616541
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V...	ORPHA:470
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis	ORPHA:3240
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Myocarditis, Abnormal blood i...	ORPHA:810
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Hyperammonemia, Weight...	ORPHA:20
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hypoglycemia, ...	OMIM:616007
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He...	ORPHA:699
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Pulmonary embolism, Dilated cardiomyopat...	ORPHA:79282
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Glucose intolerance, Hashimoto thyroiditis, Alopecia, Premature ovarian in...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Glucose intolerance, Hashimoto thyroiditis, Alopecia, Premature ovarian in...	ORPHA:99228
Monosomy X	Myocardial infarction, Glucose intolerance, Hashimoto thyroiditis, Alopecia, Premature ovarian in...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Glucose intolerance, Hashimoto thyroiditis, Alopecia, Premature ovarian in...	ORPHA:881
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu...	OMIM:617156
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Abnormal erythrocyte enzyme level, Jaundice, Dysphagia, Glycosuria, Unconju...	ORPHA:447
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia	OMIM:618182
Weaver Syndrome	Inguinal hernia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure...	OMIM:277590
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia...	ORPHA:275761
Cholera	Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp...	ORPHA:173
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub...	ORPHA:99826
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Limitation of joint mobility, Bilateral wrist flexion contract...	ORPHA:97297
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia	OMIM:611126
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Abnormal autonomic nervous system physiology, Emotional lability, P...	OMIM:256800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypoglycemia, Aggressive behavior, Flexion contracture, Growth delay, Hyp...	ORPHA:17
Glycogen Storage Disease Ic	Hypoglycemia, Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Delaye...	OMIM:232240
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, H...	ORPHA:100924
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:620330
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypoglycemic seizures, Growth delay, Hypertrophic cardiomyopathy, Hypoket...	OMIM:231530
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:276700
Deeah Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:619004
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Aggressive behavior, Precocious puberty, Synophrys, Obesity, Umbilical hernia, Abno...	OMIM:301066
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Kabuki Syndrome 2	Short stature, Highly arched eyebrow, Postnatal growth retardation, Hirsutism, Long eyelashes, Pu...	OMIM:300867
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ...	OMIM:168000
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Umbilical hernia, Aortic valve stenosis, Small for gestational age, Hypoglycemia	OMIM:614501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Bradycardia, Dysphagia	OMIM:617248
1P36 Deletion Syndrome	Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Abnormal repetitive manner...	ORPHA:1606
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Congestive heart failure, Flexion contracture, Growth delay, Intrauterine growth reta...	OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cyanosis, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Growth delay, Hyperalaninemia, Hy...	OMIM:252010
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Cerebral Visual Impairment	Intracranial hemorrhage, Neonatal hypoglycemia, Ischemic stroke, Attention deficit hyperactivity ...	ORPHA:447788
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morpholog...	ORPHA:2710
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria	OMIM:231680
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ...	OMIM:615538
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair...	ORPHA:565
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Small for gestational age, Hypoglycemia, Portal hypertension, Short stature, Gro...	OMIM:613658
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia	OMIM:608624
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag...	OMIM:609136
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Aortic val...	ORPHA:401973
Cutis Laxa, Autosomal Recessive, Type Ib	Abnormal pinna morphology, Bradycardia, Low-set ears, Pulmonary insufficiency, Joint hypermobility	OMIM:614437
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Wars2-Related Combined Oxidative Phosphorylation Defect	Aggressive behavior, Cardiomyopathy, Dysphagia, Intrauterine growth retardation, Neonatal hypogly...	ORPHA:572798
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Atrophic scars,...	ORPHA:542643
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea...	OMIM:267000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Short stature, Hypoglycemia, Corneal scarring, Growth delay, Recurrent hypoglycemia, Failure to t...	OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Low anterior hai...	OMIM:220111
Cockayne Syndrome A	Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ...	OMIM:216400
3-Methylglutaconic Aciduria Type 7	Growth delay, Cardiomyopathy, Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hypoglycemia, Hyperammonemia, Intracranial hemorrhage, Agitat...	ORPHA:90062
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Conjuga...	OMIM:620305
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia	OMIM:229700
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Hypoglycemia, Low anterior hairline	OMIM:620224
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Hypoglycemia, Elevated circulating alpha...	ORPHA:116
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Hypoglycemia, Arteritis, Short stature	OMIM:233600
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Otosclerosis, Impulsivity, Aggressive behavior, Decreased nerve condu...	ORPHA:580
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi...	ORPHA:3337
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia, Dysphagia	ORPHA:25
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Brittle hair, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertrophic...	OMIM:124000
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru...	OMIM:229600
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Chromosome 1P36 Deletion Syndrome, Distal	Epileptic spasm, Camptodactyly of finger, Infantile spasms, Aggressive behavior, Polyphagia, Obes...	OMIM:607872
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Ano...	ORPHA:324
Simpson-Golabi-Behmel Syndrome	Omphalocele, Bundle branch block, Inguinal hernia, Prolonged QT interval, Hypoglycemia, Camptodac...	ORPHA:373
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Osteoporosis, Bradycardia	ORPHA:79404
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Hair-pulling, Protruding ear, Hypsarrhythmia, Irritab...	ORPHA:447997
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Griscelli Syndrome	Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gray hair, White ...	ORPHA:381
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Hereditary Fructose Intolerance	Reactive hypoglycemia, Hypermagnesemia, Growth delay, Hyperuricemia, Hypophosphatemia	ORPHA:469
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Dysphagia, Sinus bradycardia	OMIM:619482
Costello Syndrome	Curly hair, Hypoglycemia, Short stature, Achilles tendon contracture, Arrhythmia, Pulmonic stenos...	OMIM:218040
Apolipoprotein A-I Deficiency	Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, A...	ORPHA:425
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Ab...	ORPHA:353281
Goodpasture Syndrome	Weight loss, Cyanosis, Increased blood urea nitrogen	OMIM:233450
Non-Specific Early-Onset Epileptic Encephalopathy	Impulsivity, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Attention deficit ...	ORPHA:442835
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical cytomegaly, Adrenocortical carcinoma, Cryptorchidism, Cardiomyopathy,...	OMIM:130650
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia, Large for gestational age, Sparse eyebrow, Slender build, Broad eyebrow	ORPHA:457359
Histidinemia	Hyperactivity	ORPHA:2157
Sotos Syndrome	Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Aggressive behavior, ...	ORPHA:821
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Compulsive behaviors, ...	ORPHA:904
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Conjugated hyperb...	ORPHA:186
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Holoprosencephaly 1	Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Developmental And Epileptic Encephalopathy 38	Irritability, Hypsarrhythmia	OMIM:617020

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 Arv1

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 Arv1.

No publications found that use IMPC mice or data for Arv1.

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

MGI Allele	Allele Type	Produced
Arv1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Arv1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Arv1^em1(IMPC)J	Exon Deletion	Mice

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: Arv1 MGI:1916115

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Arv1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data