Gene Summary

Name:
ARV1 homolog, fatty acid homeostasis modulator
Synonyms:
1110067L22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged RR interval Arv1em1(IMPC)J HOM   Early adult 2.79×10-05
increased grip strength Arv1em1(IMPC)J HOM Early adult 9.70×10-06
decreased heart rate Arv1em1(IMPC)J HOM   Early adult 2.85×10-05
hyperactivity Arv1em1(IMPC)J HOM Early adult 1.09×10-27
decreased bone mineral density Arv1em1(IMPC)J HOM   Early adult 6.73×10-06
increased thigmotaxis Arv1em1(IMPC)J HOM Early adult 8.37×10-05
abnormal auditory brainstem response Arv1em1(IMPC)J HOM   Early adult 3.30×10-11

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

Auditory Brain Stem Response

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

7 Images

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.

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
Hypsarrhythmia, EEG with multifocal slow activity, Impulsivity, Optic atrophy, Attention deficit ... ORPHA:442835
Developmental And Epileptic Encephalopathy 38
Ataxia, Status epilepticus OMIM:617020

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Hearing impairment OMIM:614896
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Hypertensio... ORPHA:71529
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Growth delay, Short stature, Dec... ORPHA:314811
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... ORPHA:171706
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Fine hair, Truncal ob... ORPHA:181393
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71526
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Splenomegaly, Hepatomegaly, Myoclonus, Hypochole... OMIM:610539
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Abnormal autonomic ... ORPHA:101016
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adi... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decrease... OMIM:615238
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Delayed ... ORPHA:314802
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Flexion contracture, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Osteopenia OMIM:608747
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Chylomicron Retention Disease
Impaired vibratory sensation, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, ... OMIM:246700
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Hy... OMIM:610883
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Hypotension, Polyphagia, Glucose intolerance, Postural hypotension wit... ORPHA:369873
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Obesity, Adrenal hypoplasi... OMIM:609734
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Dysmetria, Diabetes insipidus, Impaired vibratory se... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic steatosis, Flexion contracture, Vomiting, Hepatomegaly, Ataxia, Abnormal ... OMIM:212065
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Decreased adiponectin level, Diabetes mellitus, Decreased HDL cholester... ORPHA:280365
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Mitral regurgitation, Prol... OMIM:616648
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, H... ORPHA:542306
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Short stature, Precocious puberty, Po... ORPHA:254516
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Insulin resistance, Sev... ORPHA:73272
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogo... OMIM:614962
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Primary amenorrhea, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Genera... OMIM:612526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Short... ORPHA:369
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, H... ORPHA:363400
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, Elev... OMIM:615980
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Arrhythmia, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thri... OMIM:614702
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hypercholesterolemi... ORPHA:79237
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Sensorineural hearing impairment OMIM:617248
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Failure to thrive, Hypocholesterolemia, D... OMIM:616834
Mehmo Syndrome
Hypoglycemia, Delayed puberty, Small for gestational age, Obesity, Decreased response to growth h... OMIM:300148
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Primary amenorrhea, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutan... OMIM:604367
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of truncal subcutaneous adipose tissue, Abnormal circulating lipid concentration, Diabetes m... OMIM:608709
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Intrauterine growth retardation, Congestive heart failure, Failure to thrive, Decre... OMIM:619048
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Impaired proprioception, Vomiting, Fa... ORPHA:71
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Short stature, Obesity, Hyperinsulinemia ORPHA:329249
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Autonomic bladder dysfunction, Abnormal EKG, Hypertrophic c... ORPHA:330001
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Growth delay, Short stature, Adre... OMIM:307030
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Abetalipoproteinemia
Hypothyroidism, Hyperbilirubinemia, Impaired distal proprioception, Positive Romberg sign, Decrea... ORPHA:14
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Irritabi... OMIM:212138
Trimethylaminuria
Tachycardia, Depression, Hypertension OMIM:602079
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, Short stature, ... OMIM:232400
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy OMIM:609016
Leptin Receptor Deficiency
Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Abnormal eating behavior, Short stature... OMIM:614963
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Long eyelashes, Hypocalcemia, Hypergonadotropic hypogonadism, Failure to t... OMIM:606407
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Arrhythmia, Cardiomyopathy, Bradycardia, Depression OMIM:609286
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Aggressive behavior OMIM:239500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Intrauterine growth retardation, Elevated circulating acylcarnitine concent... ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
2P21 Microdeletion Syndrome
Hypoglycemia, Long eyelashes, Hypocalcemia, Growth delay, Failure to thrive, Hypogonadism ORPHA:163693
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hypoglycemia, Hy... ORPHA:2298
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed proximal femoral epiphyseal ossification ORPHA:95717
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormality,... ORPHA:98818
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggr... ORPHA:3077
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Severe short stature, Truncal obesity, Delayed puberty, Abnor... ORPHA:633
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Gastroesophageal reflux, Abnormal enzyme/coenzyme activity,... ORPHA:79324
Huntington Disease
Choking episodes, Oral-pharyngeal dysphagia, Inability to walk, Decreased body mass index, Chorea... ORPHA:399
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia, Sparse eyela... OMIM:610768
Glossopharyngeal Neuralgia
Jaw claudication, Anxiety, Bradycardia, Cranial nerve compression, Syncope, Depression, Abnormal ... ORPHA:221098
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Elevated circulating fumarate concentration, Elevated ci... OMIM:615160
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Amenorrhea,... ORPHA:95619
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Bradyc... ORPHA:3299
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia, Decreased body weight, Small for gestational age, Short stat... ORPHA:231140
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Joint contracture of the 5th finger, Atrioventricular block, Macrotia, Brady... OMIM:614407
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity, Increased serum serotonin, Short stature, Hirsutism ORPHA:85288
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix ORPHA:100973
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Aggressive behavior, Personality... ORPHA:2382
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Enamel hypoplasia, Increased blood urea nitrogen, ... ORPHA:90321
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Congestive heart failure, Recurrent hypoglycemia, Decreas... OMIM:212140
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia, Failure to thrive in in... ORPHA:6
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hypoglycemia, Hyperisoleucinemia, Decreased plasma ca... ORPHA:2394
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Hypoargininemia, Abnormal circulating tyrosine concentration, Failure to thrive, Ab... ORPHA:79096
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism, Cholestasis, Abnormal blood ion concentration, Co... ORPHA:95427
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine growth retardation, Long eyelashes, Sho... ORPHA:48431
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hype... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Hyperamylasemia, Hypertrophic cardiomyopathy, Elevated circu... OMIM:619386
Glycine Encephalopathy
Irritability, Impulsivity, Hyperactivity, Aggressive behavior OMIM:605899
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevated circulating cr... OMIM:614817
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:79159
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel morphology, Polypha... ORPHA:251004
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Decreased body weight, Intrauterine growth retardation, Small for g... ORPHA:391408
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Flexion contracture, Low-set ears OMIM:610015
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Primary adrenal insufficiency, Hypoglycemia, Hypogonadism OMIM:617872
Graves Disease, Susceptibility To, 1
Congestive heart failure, Graves disease, Hyperactivity, Polyphagia, Goiter, Weight loss OMIM:275000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased plasma total carnitine, Distal arthrogryposis, Decreas... ORPHA:42
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, Hepatic steatosis, Decre... ORPHA:71212
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Anxiety, Hyperactivity, Aggressive behavior, Posteriorly rotated ears, Macrotia OMIM:609425
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Premature graying of hair, Hyperlipoproteinemia, Flexion contracture, Weight loss,... ORPHA:1979
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hypoalbuminemia OMIM:617156
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hypoglycemia, Orthostatic hypotension, Hypotension, Decreased circ... ORPHA:95409
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Short stature, Polyphagia ORPHA:177910
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:619470
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia ORPHA:289504
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Secondary amenorrhea, Decreased... ORPHA:79239
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Cardiomyopathy ORPHA:67048
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Constipation, Gastroesophageal reflux, Obesity... OMIM:615547
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Citrullinemia Type Ii
Decreased body mass index, Acute hyperammonemia, Pancreatitis, Diarrhea, Decreased HDL cholestero... ORPHA:247585
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age, Hypogonadism OMIM:617119
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Small for gestational age ORPHA:231147
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Ileus, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemi... OMIM:613327
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossification ORPHA:226313
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Sheehan Syndrome
Hypoglycemia, Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Central adrenal... ORPHA:91355
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment, Delayed proximal femoral epiphyseal ossification ORPHA:95716
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Short stature, Postprandial ... ORPHA:2089
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Low-set ears, Limited hip extension, Bradycardia, Tachycardia OMIM:614653
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Dysphagia OMIM:618958
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Dysmeno... ORPHA:397590
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age, Long eyelashes, Fine hair, Short stature, High anterior ... ORPHA:231137
Macrosomia Adiposa Congenita
Polyphagia, Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow OMIM:617190
Rabson-Mendenhall Syndrome
Hypothyroidism, Hypokalemia, Increased C-peptide level, Increased pineal volume, Increased circul... ORPHA:769
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level, F... OMIM:202200
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Coproporphyria, Hereditary
Anxiety, Depression, Hypertension, Tachycardia OMIM:121300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Sei... OMIM:235400
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Glucocorticoid Resistance, Generalized
Infertility, Hypoglycemia, Irregular menstruation, Hypertension, Hirsutism OMIM:615962
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Ataxia, Polyphagia, Seizure, Broad-based gait ORPHA:411515
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Irregular menstruation, Hypercholesterolemia, Dysmenorrhea, G... ORPHA:264580
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hydroxykynureninuria
Tachycardia, Hypotension, Hearing impairment OMIM:236800
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Dysphagia, Hyperammonemia OMIM:618253
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Pancreatic islet-cell hy... OMIM:246200
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate OMIM:614741
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Addison Disease
Primary adrenal insufficiency, Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Thym... ORPHA:85138
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Hypoglycemia, Hyponatremia, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Propionic Acidemia
Arrhythmia, Hypoglycemia, Cardiomyopathy, Hyperammonemia ORPHA:35
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Seizure, Hepatomegaly OMIM:618810
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia, Arrhythmia, Hypertrophic cardiomyopathy, Sudden cardiac d... ORPHA:156
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Impaired social interactions, Cyanosis, Abno... ORPHA:293987
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Seizure, Poor eye contact OMIM:613886
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Vomiting, Splenomegal... ORPHA:370
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Short s... OMIM:618120
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Central adrenal insufficiency, Decreased... ORPHA:98754
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Congenital foot contractures, Optic disc pa... ORPHA:565624
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Increased circulating androgen concentration, Hyperactive renin-an... ORPHA:90794
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Central adrenal insufficiency, Decreased... ORPHA:98793
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Hyponatremia, Decreased circu... ORPHA:361
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Hyponatremia, Hypercalcemia, Orthostatic hypotension, Hashimoto thyroi... ORPHA:199299
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Abnormal circulating lipid concentration, Hypertrophic card... ORPHA:225
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Central adrenal insufficiency, Decreased... ORPHA:177904
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Central adrenal insufficiency, Decreased... ORPHA:177901
Aromatase Deficiency
Generalized hirsutism, Hyperlipidemia, Insulin resistance, Primary amenorrhea, Obesity, Growth de... ORPHA:91
Galactosemia
Hypergalactosemia, Hepatic failure, Hepatomegaly, Jaundice, Ataxia, Abnormal enzyme/coenzyme acti... ORPHA:352
Mody
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Intrauterine growth retardation, Ob... ORPHA:552
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Prominent crus of helix, Hyperactivity, Aggressive behavior, Macrotia, Abnormality of su... OMIM:301013
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Bilateral sensorineural hearing impairm... ORPHA:90647
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Microtia, Bilateral sensorineural hearing impair... ORPHA:40366
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Intrauterine growth retardation, Growth delay, Failure to thrive, Hyperglycinemia, ... OMIM:245400
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Flexion contracture, Osteopenia, Elbow flexion contracture, Hyperactivity, Aggress... OMIM:616809
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Lipoatrophy, Short stature, Hypertension, Type II diabe... ORPHA:2833
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Prader-Willi Syndrome
Small pituitary gland, Infertility, Hypopigmentation of hair, Premature pubarche, Primary amenorr... ORPHA:739
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Intrauterine growth retardation, Abno... OMIM:231100
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Aggressive behavior, Posteriorly rotated ears OMIM:617773
Atypical Werner Syndrome
Glycosuria, Aplasia/Hypoplasia of the eyebrow, Telangiectasia of the skin, Chondrocalcinosis, Hyp... ORPHA:79474
Angelman Syndrome
Constipation, Dysphagia, Polyphagia, Infantile spasms, Atonic seizure, Hyperactivity, Obesity, Po... ORPHA:72
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Cog4-Cdg
Intermittent diarrhea, Hepatosplenomegaly, Failure to thrive in infancy, Complex febrile seizure,... ORPHA:263501
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Central adrenal insufficiency, Decreased... ORPHA:398073
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypog... OMIM:617575
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level, Obesity,... OMIM:600955
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Irritability, Posteriorly rotated ears, ... OMIM:300831
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Dorsocerv... ORPHA:189439
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissu... OMIM:608612
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Infertility, Premature pubarche, Primary am... ORPHA:398079
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Growth delay, Hypertriglyceridemia, Postnatal growth retardation OMIM:613027
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Hypopigmen... OMIM:176270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia, Hypertrophic cardiomyopathy, Dysphagia, Hyperammonemia ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Hyperprolinemia, Increased serum pyruvate, Failure to thrive, Cardiomyopat... OMIM:619046
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stim... ORPHA:189427
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Hypercalcemia, Pituitary prolactin cell adeno... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Hypogly... OMIM:618838
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Growth delay ORPHA:163690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Nausea, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia,... ORPHA:79240
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:246900
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Low-set ears, Aggressive behavior OMIM:618342
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Emotional la... ORPHA:206443
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia, Infertility, Oligomenorrhea, Increased urinary cortisol level, Frontal... ORPHA:786
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia, Aggressive behavior OMIM:615541
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia, Absent eyebrow, Sparse eyelashes, Hyperbilirubinemia, Sp... OMIM:619075
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Elevated hep... OMIM:214900
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:614739
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypergly... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level, Elevated cir... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level, Hypertrophic... OMIM:618835
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Acquired Generalized Lipodystrophy
Generalized hirsutism, Insulin resistance, Hyperinsulinemia, Abnormal circulating lipid concentra... ORPHA:79086
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Hyponatremia, Decreased circulating androgen concentration, Dec... ORPHA:293978
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Irritability, Posteriorly rotated ears ORPHA:251383
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline OMIM:261680
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hyponatremia, Oligomenorrhea, Hypopituitarism, Hypotens... ORPHA:95613
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Hypopigmentation of hair, Premature pubarche, Flexion contrac... ORPHA:398069
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Highly arched eyebrow, Failure to thrive, Low anterior hairline, Hirsutism, Hypergl... OMIM:220111
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Growth delay, Failure to thrive, Diabetes mellitus, Hypertrigly... ORPHA:2088
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Short stature, Ty... ORPHA:3191
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... ORPHA:199296
Secondary Intestinal Lymphangiectasia
Chronic diarrhea, Secondary hyperaldosteronism, Intestinal bleeding, Hypoalbuminemia, Reduced cir... ORPHA:90363
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Ventricular tachycardia, Arrhythmia, Elevated circulating acylcar... ORPHA:159
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate OMIM:266150
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
6Q16 Microdeletion Syndrome
Polyphagia, Thick eyebrow, Obesity ORPHA:171829
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Absent brainstem au... ORPHA:1215
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Hyperactivity, Growth delay, Highly arched eyebrow, Short stature, Synophr... ORPHA:228402
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Hyperactivity, Hearing impairment, Aggressive behavior ORPHA:457260
Rett Syndrome
Cholecystitis, Increased serum pyruvate, Inability to walk, Increased serum leptin, Failure to th... ORPHA:778
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Proportionate short stature, Hypopitui... ORPHA:54595
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Ataxia, Elevated circulating creatine kinase concentration, Giant c... ORPHA:79095
Paragangliomas 3
Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Epi... OMIM:605373
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Cebalid Syndrome
Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia, Highly arched eyebrow OMIM:618774
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity OMIM:616521
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Depression, Delayed proximal femoral epiphyseal ossification, Attention deficit hype... ORPHA:90674
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating cre... OMIM:600649
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Aggressive behavior, Joint hypermobility, Mitral regurgitation, Tricuspid regu... OMIM:261990
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Intrauterine growth retardation, Small for gestational age, Recurrent hypoglycemi... OMIM:616817
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Papilledema OMIM:618775
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Aggressive behavior, Dense calvaria, Asymmetric septal hypertroph... OMIM:252920
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu... ORPHA:2126
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:300438
Propionic Acidemia
Hypoglycemia, Cerebellar hemorrhage, Failure to thrive, Short stature, Cardiomyopathy, Hyperglyci... OMIM:606054
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature pubarche, Torsade de pointes, Cardiac arrest, Elevated ci... OMIM:616878
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Small... ORPHA:26793
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Intrauterine growth retardation, Congestive heart failure, Hyperprolinemia, Increas... OMIM:619355
Smith-Kingsmore Syndrome