Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 8
Synonyms:
slmbr,  sltr,  Kir6.1,  gnite

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.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnj8 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 Kcnj8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kcnj8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Nathalie Syndrome
Arrhythmia ORPHA:2663
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Periventricular Nodular Heterotopia
Aortic regurgitation, Aortic aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus ORPHA:98892
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A... OMIM:619825
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Ethanolaminosis
Cardiomegaly OMIM:227150
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
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
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
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
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss ORPHA:52416
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Gener... OMIM:208050
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Idiopathic Achalasia
Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:930
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cap Myopathy
Increased variability in muscle fiber diameter, Aortic root aneurysm, Sinus tachycardia, Lower li... ORPHA:171881
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy ORPHA:401923
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Abnormal heart valve morphol... ORPHA:230851
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M... OMIM:193400
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis OMIM:607016
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Pulmonary Blastoma
Weight loss ORPHA:64741
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur... ORPHA:100080
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig... OMIM:115197
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Splenomegaly, Pulmonary arterial hyperten... OMIM:230800
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, H... OMIM:615415
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... ORPHA:96147
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul... OMIM:252605
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... ORPHA:423461
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Splenomegaly, Hepatomegaly, Patent du... OMIM:135500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100082
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Weight loss, Ulcera... OMIM:266600
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia,... OMIM:615668
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Patent du... OMIM:267010
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Stroke, Muscle fibe... ORPHA:449285
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
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
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:97287
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... ORPHA:81
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Contracture of the distal interphalangeal joint of... OMIM:607015
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal de... OMIM:609029
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Fibromuscular Dysplasia, Arterial
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Cleft palate, Microglossia ORPHA:141152
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Aa Amyloidosis
Hepatomegaly, Hypotension, Enlarged kidney, Abnormal heart morphology ORPHA:85445
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Macroglossia, Flexion con... ORPHA:261290
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Analbuminemia
Hypotension, Patent ductus arteriosus OMIM:616000
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Weight loss, Failure to thrive OMIM:620045
Hirschsprung Disease
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... ORPHA:388
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
1P36 Deletion Syndrome
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:1606
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Mitral stenosis OMIM:617660
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Supravalvular ao... OMIM:219100
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa... ORPHA:101028
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99228
Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:881
Morbid Obesity And Spermatogenic Failure
Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Pulmonary ar... OMIM:614185
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... OMIM:301039
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... ORPHA:99050
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Hepatomegaly, Fatigable weakness of swallowing muscles, Vasculitis, H... ORPHA:365
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arte... ORPHA:96170
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo... ORPHA:56
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly ORPHA:93474
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Mitral regurgitation, Intimal thickening in the coronary art... OMIM:253010
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Camptodactyly of finger, Abnormal h... ORPHA:284984
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Camptodactyly, Atrial septal defect ORPHA:459061
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta, Facial palsy ORPHA:2780
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse OMIM:604308
Dystonia 23
Arrhythmia OMIM:614860
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Hepatosplenomegaly ORPHA:309288
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Severely reduced left ventricular ejection fraction, Cardiomyopathy, Hepato... OMIM:252600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regu... OMIM:607014
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hepatomegaly ORPHA:99828
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mi... OMIM:121050
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Slender build, Cachexia, Weight loss, Gastrointestinal dysmotility OMIM:613662
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... ORPHA:980
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Cap Polyposis
Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis ORPHA:160148
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Scrub Typhus
Myocarditis, Hypotension, Splenomegaly ORPHA:83317
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Skeletal muscle atrophy, Aortic root aneurysm, Aortic ... ORPHA:558
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,... OMIM:611962
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventricular cavity, Thickened ... ORPHA:85438
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... OMIM:619656
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegal... OMIM:256550
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Perry Syndrome
Hypotension ORPHA:178509
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia, Hepatomegaly ORPHA:159
Nipah Virus Disease
Hypotension ORPHA:99825
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal aortic morphology, Coarctation of aorta, Subva... ORPHA:1052
Charge Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol... ORPHA:138
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... ORPHA:261330
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Intestinal obstruction ORPHA:26790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Diasta... OMIM:252500
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia... ORPHA:404443
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries OMIM:616603
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,... OMIM:235200
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Anauxetic Dysplasia 1
Aortic valve stenosis, Macroglossia, Elbow flexion contracture, Hip contracture OMIM:607095
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Fatigable weakness, Myopathy, Fatigable weakness of neck muscles, Cardio... ORPHA:42
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Limb hypertonia, Joint contracture ORPHA:35708
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus a... OMIM:208540
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal... ORPHA:1120
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Legionnaires Disease
Hypotension, Splenomegaly, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Necrotizing Enterocolitis
Shock, Hypotension, Abnormal heart morphology, Bradycardia ORPHA:391673
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Rhabdomyolysis OMIM:145600
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Hepatosplenomegaly, Mitral regurgitation, Splenome... OMIM:614866
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Chronic Hiccup
Weight loss ORPHA:396
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Myositis, Hepatomegaly, Myocarditis, Myoc... ORPHA:3452
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Isaacs Syndrome
Weight loss ORPHA:84142
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:908
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Hepatomegaly,... OMIM:222470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect... ORPHA:464311
Denys-Drash Syndrome
Hypertension ORPHA:220
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormality of ... ORPHA:1166
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Limb hypertonia, Ventricular septal defect OMIM:609460
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia OMIM:614501
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy ORPHA:292
Meningococcal Meningitis
Shock, Hypotension, Stroke ORPHA:33475
Mulibrey Nanism
Cachexia ORPHA:2576
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Huntington Disease-Like 2
Weight loss ORPHA:98934
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss, Hematochezia ORPHA:103910