Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ankyrin 2, brain
Synonyms:
Ankyrin-B,  Gm4392,  Ank-2,  ankyrin B,  Ankyrin-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ank2 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 Ank2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ank2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... OMIM:620236
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... OMIM:615703
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Large for gestational age, Increased hepatic glycogen content, Nonketot... ORPHA:293964
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia OMIM:616276
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... OMIM:619402
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia OMIM:619048
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri... OMIM:620734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Inability to walk, Secondary microceph... OMIM:620317
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Dystonia 23
Arrhythmia OMIM:614860
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Death in infancy, Ataxia ORPHA:85334
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Excessive shyness OMIM:618221
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, T-wave inversio... ORPHA:263297
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Inability to walk, Motor axonal neuropathy, Dysplastic corpus callosum, Microc... OMIM:618276
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Illum Syndrome
Bradycardia OMIM:208155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... OMIM:212138
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... ORPHA:280356
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity OMIM:618103
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated fourth ventricl... OMIM:615771
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Childhood Disintegrative Disorder
Mental deterioration, Reduced social reciprocity, Motor deterioration, Social and occupational de... ORPHA:168782
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Variegate Porphyria
Tachycardia OMIM:176200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Stxbp1-Related Encephalopathy
Inability to walk, Cerebral white matter atrophy, Dysplastic corpus callosum, Ataxia ORPHA:599373
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level OMIM:618856
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Left ventricular hypertrophy, Wolff-Parkinson-White syndrom... OMIM:540000
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia OMIM:619482
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrogyria, Dilate... ORPHA:171680
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly, Corneal opacity, O... OMIM:252650
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Mahvash Disease
Palpitations OMIM:619290
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Truncal ataxia, Unsteady gait, Reduced social recipr... OMIM:608636
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Ventriculomegaly, Macular hypop... ORPHA:2185
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... OMIM:170390
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia OMIM:617397
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef... OMIM:620067
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG ORPHA:480864
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Cap Myopathy
Sinus tachycardia, Reduced systolic function, Mitral valve prolapse ORPHA:171881
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Necrotizing Enterocolitis
Shock, Hypotension, Abnormal heart morphology, Bradycardia ORPHA:391673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Failure to thrive, Cerebral atrophy, Death in childhood, Hypopla... OMIM:616034
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d... OMIM:619602
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Martsolf Syndrome 2
Cataract, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Decreased body weight,... OMIM:619420
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Myopathy, Distal, Tateyama Type
Palpitations OMIM:614321
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus cal... ORPHA:401815
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect OMIM:249270
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Secondary microcephaly, Obesity, Periventricular white matter hyper... OMIM:619737
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... ORPHA:902
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Central Neurocytoma
Pain insensitivity, Cerebral calcification, Paresthesia, Abnormal lateral ventricle morphology, H... ORPHA:73256
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod... ORPHA:890
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr... OMIM:620504
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia ORPHA:230839
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Decreased body weight, M... OMIM:614833
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hyperlip... ORPHA:91
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
D-Glyceric Aciduria
Bradycardia OMIM:220120
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Hsd10 Disease
Short attention span, Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Capillary leak ORPHA:1041
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ventriculomegaly, Secondary microcephaly, Death in infancy, Neonatal death, Optic disc ... OMIM:613730
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... OMIM:618620
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Death in childhood, Microcepha... OMIM:619517
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... OMIM:616541
Encephalitis Lethargica
Bradycardia ORPHA:83600
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Abnor... ORPHA:1194