Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hairy/enhancer-of-split related with YRPW motif 2
Synonyms:
CHF1,  Hrt2,  Herp1,  Hesr2,  bHLHb32

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 Hey2 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 Hey2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Exertional dyspnea, Subarachnoid hemorrhage, ... ORPHA:91387

The table below shows human diseases predicted to be associated to Hey2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myxoma, Intracardiac
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma OMIM:255960
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Growth de... ORPHA:2414
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Peripheral edema, Orthopnea, Syncope, Atrial fibrillation, ... ORPHA:75249
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Pedal edema, Syncope, Abnormal cardiovascular system physiology, Tricuspid... ORPHA:422
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Dyspnea, Pericardial effusion, Syncope, Myopathy, Left bundle branch blo... OMIM:115197
Familial Atrial Myxoma
Exertional dyspnea, Pedal edema, Cardiac myxoma, Tricuspid regurgitation, Cholestasis, Jaundice, ... ORPHA:615
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Geleophysic Dysplasia 2
Short nose, Respiratory insufficiency, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, M... OMIM:614185
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve m... ORPHA:324410
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pul... OMIM:268500
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Obstructive sleep apnea, Wide nose, Depressed nasal ... OMIM:607016
Cardiomyopathy, Familial Hypertrophic, 26
Dyspnea, Atrial fibrillation, Left atrial enlargement, Congestive heart failure, Mitral regurgita... OMIM:617047
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Abnormal nas... ORPHA:83473
Partial Atrioventricular Septal Defect
Exertional dyspnea, Atrial flutter, Coronary sinus enlargement, Double outlet right ventricle, Tr... ORPHA:1330
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... OMIM:613426
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase ... OMIM:619048
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morphology, Tricus... ORPHA:1120
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomeg... OMIM:619167
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... OMIM:618782
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Wheezing, Right ventricular failure, Bronchospasm, Dyspnea, Hypo... ORPHA:97287
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Geleophysic Dysplasia 1
Camptodactyly of finger, Short nose, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Con... OMIM:231050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic steno... OMIM:615355
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Left ventric... OMIM:616501
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Elevated hepatic transami... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Elevated hepatic transami... ORPHA:100077
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve... OMIM:248950
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis, Short stature DECIPHER:3
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Short stature, Mitral regurg... ORPHA:3449
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral regurgitation, G... OMIM:612561
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Secundum atrial sep... OMIM:616866
Singleton-Merten Syndrome 2
Aortic valve stenosis, Short stature OMIM:616298
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Camurati-Engelmann Disease, Type 2
Delayed puberty, Hip contracture, Knee flexion contracture, Skeletal muscle atrophy, Mitral valve... OMIM:606631
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Enlarged kidney, Oligohydramnios, Cholest... OMIM:615415
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Marked muscular hypertrophy, Camptodactyly of toe, Wide nose, Joint cont... OMIM:300280
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Abnormal heart valve morphology, Pulmonic stenosis OMIM:126190
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Intrauterine growth retardation, Cardiomegaly, ... OMIM:619051
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Limb hype... OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation OMIM:225320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Respiratory insufficiency due to muscle w... OMIM:258450
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Chronic hepatic failure, Lower limb muscle weakness, Tricuspid regurgitation, Cholest... ORPHA:746
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia, ... OMIM:616276
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Bulbous nose, Aortic regurgitation, Dyspnea, Abnormal heart... ORPHA:230851
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Mucolipidosis Iii Gamma
Aortic valve stenosis, Short stature, Aortic regurgitation OMIM:252605
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aortic... OMIM:615382
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Short stature, Broad nasa... ORPHA:401923
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Elevated hepatic transami... ORPHA:100076
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Short nose, Camptodactyly, Patent foramen ovale, Mitral valve prolapse, Mitral ... OMIM:615539
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertro... OMIM:178600
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Respiratory insufficiency due to muscle... OMIM:601419
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Prolonged QT interval, Cardiomegaly, Patent for... OMIM:601005
Mungan Syndrome
Hypoperistalsis, Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgita... OMIM:611376
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Scapular winging, Ventricular septal defect, Tricuspid regurgitation, Incre... OMIM:618870
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fi... OMIM:300580
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed nas... OMIM:618499
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... ORPHA:324604
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Short stature, Intrauterine growth retardatio... ORPHA:1937
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation ORPHA:98892
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hypertension, Abnormal pulmonary interstitial morphology, Hepatomegaly, Aorti... OMIM:230800
Mental Retardation, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Right ventricular failure, Abnormal respirator... ORPHA:70589
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Short nose, Paroxysmal supraventricular tachycardia, Pulmonic stenosis, ... OMIM:617877
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Bronchospasm, Hypotension... ORPHA:100080
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Tetr... OMIM:610205
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Tricuspid regurgitation, Edema, Mitral stenosis, Tricuspid va... OMIM:212093
White Forelock With Malformations
Atrial septal defect, Bronchomalacia, Prominent veins on trunk OMIM:277740
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Pulmonary capillary hemangiomatosis, Eleva... ORPHA:199241
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Tricuspid regurgitation, Hepatic fibrosis, Portal ... OMIM:616589
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Hypotension, Pleural effusion, Cough, Pedal e... ORPHA:188
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Bradycardia, Left ventricular hypertrophy, Respiratory insuffici... OMIM:614654
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse, Obstructi... OMIM:609008
Monosomy 18Q
Bulbous nose, Pulmonary valve defects, Secundum atrial septal defect, Growth delay, Left-to-right... ORPHA:1600
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Ebstein ... OMIM:224700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Ventricular hypertrophy, Aortic regurgitation, Ventricular septal defect... OMIM:143095
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Wide nasal bridge, Depressed nasal bridge OMIM:220220
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ... OMIM:618234
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Atrial flutter, Patent ductus a... OMIM:601927
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
D-2-Hydroxyglutaric Aciduria 1
Apnea, Aortic regurgitation, Inspiratory stridor, Cardiomyopathy OMIM:600721
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona... ORPHA:3093
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Mucolipidosis Type Ii
Pulmonary insufficiency, Respiratory failure requiring assisted ventilation, Postnatal growth ret... ORPHA:576
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Laryngotracheomalacia, Aortic valve stenosis, Laryngeal web, Hypoplastic le... OMIM:617660
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta OMIM:614300
Mend Syndrome
Aortic valve stenosis, Prominent nasal bridge, Short stature OMIM:300960
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary fibrosis, Cough, Respiratory insufficiency, Telangiectasia of the... ORPHA:81
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Bronchospasm, Hematochezi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Bronchospasm, Hematochezi... ORPHA:100082
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Palpitations, Atrial septa... ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Dyspnea, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
3C Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic stenosis, Increased n... OMIM:616564
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Flexion contracture, Wide nasal bridge, Pulmonic stenosis, Aortic valve stenosis, S... ORPHA:75496
Combined Oxidative Phosphorylation Deficiency 17
Growth delay, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, A... ORPHA:210122
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Atrial septal defect, Sleep apnea, Bulbous nose, Aortic regurgitation, Ve... OMIM:614114
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse, Mitral regurgitation, Severe short stature ORPHA:3238
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Short stature OMIM:261560
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis, Short stature OMIM:614819
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Familial Aortic Dissection
Aortic regurgitation, Exertional dyspnea, Abnormal left ventricular function, Paroxysmal dyspnea,... ORPHA:229
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
19P13.12 Microdeletion Syndrome
Arrhythmia, Atrial septal defect, Arthrogryposis multiplex congenita, Aortic regurgitation, Ventr... ORPHA:254346
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:617044
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Emphysema, Aortic aneurysm ORPHA:90348
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Flexion contracture, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Growth delay, Cor triatriatum, Wide nasal bridge, Hepatomegaly, Pulmonic st... OMIM:612541
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Lymphatic Malformation 7
Atrial septal defect, Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema... OMIM:617300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Anteverted nares, Dep... ORPHA:75389
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Growth delay, Pulmonary artery hypoplasia, Heart m... ORPHA:2326
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:609029
Histiocytoid Cardiomyopathy
Tachypnea, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Cough, Atri... ORPHA:137675
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:301030
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Narrow naris, Aortic regurgitation, Tricuspid regurgitation, Biventricular ... OMIM:617402
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Paten... OMIM:614261
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Flexion contracture, Hypertension, Postnatal growth retard... OMIM:616733
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Feingold Syndrome Type 1
Tricuspid atresia, Abnormal heart morphology, Tricuspid stenosis, Short stature, Multiple muscula... ORPHA:391641
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Aortic regurgitation, Flexion contracture, Hypertension... OMIM:208050
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis, Dehydration OMIM:143880
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Atrial septal defect, Stridor, Short nose, Respiratory distress, Abnormal heart mor... ORPHA:505248
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Hypoplastic frontal sinuses, Growth delay, Wide nasal bridg... OMIM:253250
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Short stature, Skeletal muscle atrophy, Depress... OMIM:615802
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Mitral regurgitation, Hypertension, Hepatic cysts OMIM:173900
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Sleep apnea, Camptodactyly, Aortic valve stenosis, Short stature, Depressed... ORPHA:459061
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Postnatal growth retardation, Hypertension, Bicuspid aortic valve, Pulmonar... OMIM:613355
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Oligohydramnios, Growth delay, Flexion contracture, Abnormal... ORPHA:1194
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Tricuspid regurgitation, Pulmonary arterial... ORPHA:97214
Neonatal Marfan Syndrome
Abnormal echocardiogram, Emphysema, Flexion contracture, Hypoxemia, Tricuspid regurgitation, Wide... ORPHA:284979
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Baraitser-Winter Syndrome 1
Short nose, Postnatal growth retardation, Wide nasal bridge, Aortic valve stenosis, Short stature... OMIM:243310
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Flexion contracture, Hepatomegaly, Splenomegaly... OMIM:607014
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Ventricular hypertrophy, Mitral valve calcification, I... ORPHA:363618
Neuroendocrine Neoplasm Of Appendix
Palpitations, Elevated hepatic transaminase, Hypotension, Hepatomegaly, Tricuspid stenosis, Heart... ORPHA:100079
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Gastrointestinal hemorrhage, Abnormal tricuspid valve morp... ORPHA:90308
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Dextrocardia, Overriding aorta OMIM:616145
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Oligohydramnios, Pancreatic cysts, Biliary cirrhosi... OMIM:267010
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Central sleep apnea, Right ventricular failure, Exertional dyspnea, Car... ORPHA:70591
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Aortic regurgitation, Bicuspid aortic valve OMIM:132900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Aortic regurgitation, Growth delay, Aortic valve stenosis, Tetralogy of... ORPHA:96147
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Growth delay, Skeletal myopathy, Congestive heart failure... OMIM:302060
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Restrictive ventilatory defect, Right ventricular dilat... ORPHA:369847
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Sh... OMIM:105650
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Ventricular septal defect OMIM:614326
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Proportionate short stature, Supraventricular tachycardia with an accessory... ORPHA:404443
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation, Depressed nasal bridge OMIM:618929
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Endocardial fibroelastosis, Hepati... OMIM:212140
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Intrauterine growth retardation, Myopathy, Cardiomyopathy ORPHA:26792
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Ascites, Splenomegaly, Ant... OMIM:269920
Diamond-Blackfan Anemia 7
Polyhydramnios, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defe... OMIM:612562
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Exertional dyspnea, Subarachnoid hemorrhage, ... ORPHA:91387
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta OMIM:617022
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency du... ORPHA:98909
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopat... OMIM:602390
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Postnatal growth retardation, Aortic v... ORPHA:2306
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Leigh Syndrome With Cardiomyopathy
Apnea, Cardiac conduction abnormality, Respiratory distress, Central hypoventilation, Pulmonic st... ORPHA:70474
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:139466
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Pu... ORPHA:70587
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Elevated hepatic transaminase, Bronch... ORPHA:100075
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Von Willebrand Disease, Type 1
Joint hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Aortic valve stenosis, Mitral valve pro... OMIM:193400
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Congestive heart failure,... OMIM:601808
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Prominent nose, Broad nasal tip OMIM:618665
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Respiratory insufficiency, Rimmed vacuoles, Hy... OMIM:300696
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, C... OMIM:613313
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Splenomegaly, Pulmonary artery... OMIM:612726
Fabry Disease
Conjunctival telangiectasia, Abnormal endocardium morphology, Respiratory insufficiency, Delayed ... ORPHA:324
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Noonan Syndrome 3
Polyhydramnios, Atrial septal defect, Short nose, Ventricular septal defect, Pulmonic stenosis, T... OMIM:609942
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening ORPHA:96190
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma,... OMIM:235200
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated hepatic transaminase, Cardiorespiratory arrest, Hypotension, He... OMIM:212138
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Abnormal muscle glycogen content, Cirrhosis, Elevated hepatic transaminase, Respi... ORPHA:367
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Oligohydramnios, Ventricular septal defect, Growth dela... ORPHA:96170
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Wide nasal bridge, Mitral valve prolapse, Mitral regurgitation,... OMIM:619087
Tangier Disease
Atherosclerosis, Coronary artery atherosclerosis, Hepatomegaly, Myocardial infarction, Distal amy... OMIM:205400
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyperte... OMIM:613623
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Oligohydramnios, Enlarged kidney, Hepatic cysts, Pancreatic cyst... OMIM:208540
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Left-to-right shunt, Perimembrano... ORPHA:363444
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Growth delay, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Macroglossia, Diastasis recti, Aortic regurgitation, Palpebral edema, Hepat... OMIM:252500
Syndromic Diarrhea
Cirrhosis, Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Abnormal heart ... ORPHA:84064
Gms Syndrome
Respiratory insufficiency, Short stature, Tricuspid regurgitation, Depressed nasal bridge ORPHA:2090
Khan-Khan-Katsanis Syndrome
Short nose, Abnormal heart morphology, Flexion contracture, Tricuspid regurgitation, Intrauterine... OMIM:618460
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Right ventricular hypertrophy, Ventricu... OMIM:208085
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Bicuspid ao... OMIM:619149
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Postnatal growth retardation, Int... OMIM:610198
Immune-Mediated Necrotizing Myopathy
Palpitations, EMG: myopathic abnormalities, Scapular winging, Abnormal pulmonary interstitial mor... ORPHA:206569
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Atrial septal defect, Camptodactyly, Ventricular septal defect OMIM:301039
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Alveolar capillary ... OMIM:265380
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Short stature, Tracheal stenosis, Pulmonary art... OMIM:607015
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Sandestig-Stefanova Syndrome
Camptodactyly, Wide nasal bridge, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Weill-Marchesani Syndrome 1
Ventricular septal defect, Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis,... OMIM:277600
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect, Prominent nasal bridge OMIM:605321
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Atrial septal defect, Facial diplegia, Hypoventilation, Flexion c... ORPHA:70
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Scapular winging, Centrally nucleated skeletal muscle fibers, Joi... OMIM:617258
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Heart murmur, Congestive heart failure, Edema, Bacterial en... ORPHA:1054
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Peripheral pulmonary ... OMIM:617506
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Trisomy 17P
Macroglossia, Growth delay, Flexion contracture, Aortic valve stenosis, Hypoplastic left heart, S... ORPHA:261290
Nasodigitoacoustic syndrome
Pulmonic stenosis, Depressed nasal bridge OMIM:255980
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Oligohydram... ORPHA:2255
Muscular Dystrophy, Duchenne Type
Arrhythmia, Hypoventilation, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Respiratory... OMIM:310200
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Subvalvular aortic stenosis, Apnea, Atrial septal defect, Aortic regurgitation, M... ORPHA:1052
Trichohepatoenteric Syndrome 1
Polyhydramnios, Cirrhosis, Aortic regurgitation, Ventricular septal defect, Cholestasis, Hepatic ... OMIM:222470
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Underdeveloped nasal alae, Ventricular septal defect, Torticollis,... ORPHA:276432
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Bicuspid aortic valve, Aortic valve stenosis, Short stature, Chylotho... OMIM:613563
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenos... OMIM:611812
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Respiratory in... ORPHA:1909
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Dehydration, Pulmonary h... ORPHA:2260
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers... ORPHA:1349
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:619189
Carcinoid Syndrome
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Bronchospasm, Tricuspid r... ORPHA:100093
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short nose, Ventricular septal defect, Camptodactyly, Pulmonary artery a... OMIM:616894
Mucopolysaccharidosis, Type Ivb
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Hepatomegaly, Aorti... OMIM:253010
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Camptodactyly, Pat... OMIM:609192
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect OMIM:601450
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve OMIM:239711
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis, Short stature, Depressed nasal bridge OMIM:601321
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Dyspnea, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Abnormal heart morphology, Flexion contracture, Lower limb... ORPHA:1143
Mandibuloacral Dysplasia Progeroid Syndrome
Bulbous nose, Underdeveloped nasal alae, Elevated hepatic transaminase, Mitral valve calcificatio... OMIM:619127
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Tracheal atresia, Neonatal death, Bilateral lung agenesis, Coarctation ... OMIM:601612
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Tricuspid regurgitation, Hypoplasia of the musculature, Tricuspid valve ... ORPHA:1101
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Atrial septal defect, Bronchiectasis, Aortic regurgitation, Tricuspid regurgitation, Short statur... OMIM:601347
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Respiratory distress, Elevated circu... ORPHA:308552
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
American Trypanosomiasis
Arrhythmia, Dyspnea, Cough, Achalasia, Hepatomegaly, Congestive heart failure, Splenomegaly, Edem... ORPHA:3386
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Abnormal ventricular septum morphology, Abnormal aortic valve morphology OMIM:615280
Marfan Syndrome
Decreased muscle mass, Aortic regurgitation, Emphysema, Pulmonary artery dilatation, Camptodactyl... OMIM:154700
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Hepatojugular reflux, Late inspiratory ... ORPHA:2302
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Macroglossia, Bulbous nose, Aortic valve stenosis, Bicuspid aortic valve, Subglottic stenosis OMIM:614501
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Broad nasal tip ORPHA:137634
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Recurrent upper respiratory tract infections, Tricuspid regurgitati... ORPHA:508542
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Supraventricular tachycardia, Myopathy, Fatty replacement of skeletal ... OMIM:255100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Abnormality of the larynx, Tric... OMIM:263520
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Dyspnea, Respiratory distress, Mitral regurgitation, Growth delay, Tricuspid regurgit... ORPHA:2556
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Congenital Left Ventricular Aneurysm
Apnea, Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ... ORPHA:1055
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Scorpion Envenomation
Cardiogenic shock, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Bun... ORPHA:466677
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Hunter-Macdonald Syndrome
Aortic regurgitation, Camptodactyly, Hypertension, Joint contracture of the hand, Bicuspid aortic... OMIM:611962
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Patent duc... OMIM:608149
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Pulmonary edema, Pancreatitis, Shock, Abnor... ORPHA:70578
Congenital Laryngeal Web
Respiratory distress, Laryngomalacia, Short stature, Abnormal cardiac septum morphology, Stridor ORPHA:2374
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Flexion contracture of the 2nd to... ORPHA:2712
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Weakness of muscles of respiration, Congestive h... ORPHA:52430
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Abnormal vocal cord morphology, Membranous subvalvular aortic stenosis, Biliary tract... ORPHA:3191
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Enthesitis-Related Juvenile Idiopathic Arthritis
Thickened Achilles tendon, Aortic regurgitation, Abnormal heart morphology, Mitral valve prolapse... ORPHA:85438
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Bulbous nose, Aortic regurgitation, Mitral atresia, Wide nasal bridge, Pulmonary artery stenosis,... ORPHA:140952
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Sc phocomelia syndrome
Underdeveloped nasal alae, Aortic valve stenosis, Short stature, Knee flexion contracture, Intrau... OMIM:269000
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect ORPHA:3469
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Anteverted nares, Short nose, Hypertrophic cardiomyopathy ORPHA:2701
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Apnea OMIM:609069
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic regurgitation, Hypertension, Aortic va... ORPHA:402075
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Cardiomyopathy, Weakness of the intrinsic hand ... ORPHA:399103
Gms Syndrome
Proportionate short stature, Short nose, Tricuspid regurgitation, Depressed nasal bridge OMIM:138770
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Short stature, Pulmonary arterial hype... OMIM:300887
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Ventricular hypertrophy, Arrhythmia, Decreased muscle... ORPHA:263297
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Atrial Standstill 2
Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave... OMIM:615745
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Anteverted nares, Ventricular septal defect ORPHA:261250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:96167
Sandhoff Disease