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:
bHLHb32,  CHF1,  Herp1,  Hesr2,  Hrt2

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
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Paroxysmal dyspnea, Subar... ORPHA:91387

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Right atrial enlargement, Pulmon... ORPHA:75249
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Myofiber disarray, Cerebral hemorrhage, M... OMIM:619897
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... ORPHA:2414
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... ORPHA:422
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular hypertrop... OMIM:604169
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulmonic stenosis, Arrhythmia, Mit... ORPHA:228410
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Rig... OMIM:115197
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... ORPHA:99106
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Hepatomegaly, Short stature, Tricuspid stenosis, Mitral r... OMIM:614185
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Intrauterine growth retardation, Right atrial enlargement, Anomalous pu... ORPHA:555874
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular noncompaction, Sudden cardiac death, Left ventricular hypert... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferas... OMIM:619048
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Weill-Marchesani Syndrome
Aortic valve stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Ventricular septal... ORPHA:3449
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, ... OMIM:612863
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... OMIM:618782
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... OMIM:613642
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Mitral regurgitation, Left ventricul... OMIM:619167
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Obstructive sleep apnea OMIM:607016
Noonan Syndrome 8
Atrial septal defect, Short stature, Pulmonic stenosis, Mitral regurgitation, Left ventricular hy... OMIM:615355
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Tachypnea, Aortic regurgitation, Hypertr... OMIM:616501
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Hypertrophic cardiomyopa... OMIM:619705
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... ORPHA:85451
Singleton-Merten Syndrome 2
Aortic valve stenosis, Short stature OMIM:616298
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis, Short stature DECIPHER:3
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Bronchial Neuroendocrine Tumor
Asthma, Abnormal pulmonary valve cusp morphology, Tricuspid regurgitation, Hepatomegaly, Hepatic ... ORPHA:97287
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... ORPHA:980
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Reduced left ventricular ejection fraction, Holosystolic murmur, Paroxysmal atrial ... ORPHA:1677
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cholestasis, Enlarged ki... OMIM:615415
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormal heart valve morphology OMIM:126190
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventricular septal ... OMIM:619170
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Hepatomegaly, Short statur... OMIM:231050
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... ORPHA:100077
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... OMIM:261740
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Camurati-Engelmann Disease, Type 2
Hip contracture, Mitral regurgitation, Mitral valve prolapse, Knee flexion contracture, Delayed p... OMIM:606631
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Respiratory insufficiency, Hypertrophic cardiomyopathy, Intrauterine grow... OMIM:616276
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Short stature, Pulmonic stenosis, V... OMIM:248950
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aort... ORPHA:363705
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse OMIM:225320
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis, Short stature OMIM:614819
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Primary Pulmonary Hypoplasia
Apnea, Asthma, Intrauterine growth retardation, Secundum atrial septal defect, Hypoxemia, Tachypn... ORPHA:2257
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Short stature OMIM:252605
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situ... OMIM:615382
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic sten... ORPHA:100076
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Diamond-Blackfan Anemia 6
Atrial septal defect, Tracheomalacia, Mitral regurgitation, Tetralogy of Fallot, Ventricular sept... OMIM:612561
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Myopathy, Myosin Storage, Autosomal Recessive
Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hyaline bodies, Right axis de... OMIM:255160
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia OMIM:616277
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent foramen ovale, Pneumonia, Prol... OMIM:601005
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Type 1 fib... OMIM:300580
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Unroofed coronary sinus, Bundle branch block, Anomalous pulmonary ve... ORPHA:99104
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Short stature, ... ORPHA:324604
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Respiratory insuffic... ORPHA:746
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Spontaneous pneumothorax, Aortic regurgitation, Chronic pulmonary obstruction OMIM:619825
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Short stature, Camptodactyly of finger, Ventricular septal de... ORPHA:1937
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Skeletal muscle hypertrophy, Mitral regurgitation, Camptodactyly o... OMIM:300280
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation ORPHA:98892
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Hepatomegaly, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Obstructi... OMIM:609008
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... OMIM:616589
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Endocardial... OMIM:302060
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Abnormal T-wave,... ORPHA:3093
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tricuspid regurgitation, Tendon rupture, Short stature, Mitral regurgitatio... ORPHA:230851
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... OMIM:230800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Camptodactyly, Mitral valve prolapse, Patent foramen ovale, Facial hypotonia OMIM:615539
D-2-Hydroxyglutaric Aciduria 1
Apnea, Aortic regurgitation, Cardiomyopathy, Inspiratory stridor OMIM:600721
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Respiratory insufficiency, Intrauterine growth retardation, Bradyca... OMIM:614654
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Right ... ORPHA:70589
Neuroendocrine Tumor Of The Colon
Melena, Abnormal pulmonary valve cusp morphology, Tricuspid regurgitation, Hepatomegaly, Right ve... ORPHA:100080
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Hypotension, Cough, Pedal edema, Pleural ... ORPHA:188
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta OMIM:614300
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Short stature, Renovascular hypertension, Aortic regurgitation, Dilated ca... ORPHA:401923
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Atrial flutter, Overri... OMIM:601927
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Flexion contracture, Short statu... OMIM:143095
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Tricuspid regurgitation, Short stature, Ventricular septal defect, Patent f... OMIM:618870
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopathy, Congestive... OMIM:618234
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Short stature OMIM:261560
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Mungan Syndrome
Pulmonic stenosis, Hypoperistalsis, Tricuspid regurgitation, Perimembranous ventricular septal de... OMIM:611376
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... ORPHA:2847
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Short stature, Ventricular septal defect, Co... OMIM:600987
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Diastasis recti, Telangiectases of the cheeks, Splenomegaly, Pa... ORPHA:576
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 17
Growth delay, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Neuroendocrine Tumor Of The Rectum
Melena, Abnormal pulmonary valve cusp morphology, Tricuspid regurgitation, Hepatomegaly, Right ve... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Abnormal pulmonary valve cusp morphology, Tricuspid regurgitation, Hepatomegaly, Right ve... ORPHA:100082
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Antisynthetase Syndrome
Telangiectasia of the skin, Respiratory insufficiency, Xerostomia, Myositis, Myocarditis, Abnorma... ORPHA:81
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Short stature, Pulmonic stenosis, Mitral regurgitation, Le... OMIM:616564
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Pulmonary art... OMIM:265400
Familial Aortic Dissection
Abnormal left ventricular function, Aortic regurgitation, Exertional dyspnea, Paroxysmal dyspnea,... ORPHA:229
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Pulmonic stenosis, Transposition of the great arteries, Paroxysmal supraventricula... OMIM:617877
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... ORPHA:1600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, We... OMIM:258450
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Emanuel Syndrome
Intrauterine growth retardation, Aortic valve stenosis, Atrial septal defect, Congenital diaphrag... OMIM:609029
Lymphatic Malformation 7
Respiratory distress, Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops feta... OMIM:617300
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse, Severe short stature ORPHA:3238
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Short stature, Mitral regurgitation, Pulmonary insufficiency, Hear... ORPHA:2326
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Tricuspid regurgitation OMIM:615879
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... ORPHA:137675
Mosaic Variegated Aneuploidy Syndrome 2
Sleep apnea, Severe intrauterine growth retardation, Atrial septal defect, Short stature, Abnorma... OMIM:614114
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Flexion contracture, Left ventricular hypertr... OMIM:616733
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... OMIM:612541
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Disproportionat... OMIM:619698
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Feingold Syndrome Type 1
Tricuspid atresia, Short stature, Tricuspid stenosis, Multiple muscular ventricular septal defect... ORPHA:391641
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect ORPHA:75389
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Short stature, Pulmonic stenosis, Growth delay, Skele... ORPHA:75496
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Postnatal growth retardation, Hypertension, Pulmonar... OMIM:613355
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Flexion con... OMIM:208050
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Mend Syndrome
Aortic valve stenosis, Short stature OMIM:300960
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Annular pancreas, Atrial se... ORPHA:210122
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Dehydration, Aortic valve stenosis OMIM:143880
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis OMIM:220220
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Intrauterine growth retardation, Hepatomegaly, Flexion contr... ORPHA:1194
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Respiratory ins... ORPHA:732
19P13.12 Microdeletion Syndrome
Atrial septal defect, Mitral regurgitation, Arrhythmia, Ventricular septal defect, Aortic regurgi... ORPHA:254346
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolis... ORPHA:90308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Neuroendocrine Neoplasm Of Appendix
Asthma, Hepatomegaly, Tricuspid stenosis, Palpitations, Hypotension, Heart murmur, Elevated hepat... ORPHA:100079
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Atrioventricula... ORPHA:97214
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Mitral regurgitation, Ventricular septal defect, Aortic reg... OMIM:123700
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Respiratory insufficiency, Limb hypertonia, Ventricular septal def... OMIM:619909
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Mitral valve prolapse, Hypertension, Hepatic cysts OMIM:173900
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... OMIM:603387
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... OMIM:619040
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Short stature, Recurrent lower respiratory tract inf... OMIM:617744
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... ORPHA:86812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal defect, Ca... ORPHA:49827
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Red... ORPHA:70591
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Catel-Manzke Syndrome
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Overriding aorta OMIM:616145
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Situs inversus totalis, Poly... OMIM:202650
Mogs-Cdg
Respiratory distress, Apnea, Pulmonary edema, Hepatomegaly, Atrial septal defect, Left ventricula... ORPHA:79330
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Wrist flexion... OMIM:121050
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Pulmonary hypoplasia, Overriding aorta, Cardiomegaly OMIM:617022
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Restrictive ventilatory defect, Right ventricular dilatation, Myo... ORPHA:369847
Noonan Syndrome 14
Short stature, Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Polyhydramnios, Sc... OMIM:619745
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Secundum atrial septal defect, Hepatic failure, Hypertension, Recurrent respiratory... OMIM:619758
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Skeletal muscle atrophy, Secundum atrial septal defect, Short stature OMIM:615802
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Diamond-Blackfan Anemia 1
Atrial septal defect, Short stature, Tricuspid stenosis, Ventricular septal defect, Intrauterine ... OMIM:105650
Feingold Syndrome 2
Ventricular septal defect, Postnatal growth retardation, Short stature OMIM:614326
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... ORPHA:99125
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Elevated hepatic tr... OMIM:212138
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Short stature OMIM:617660
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Congestive heart failure, Atrial septal defect, Tricusp... ORPHA:505248
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... ORPHA:284979
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Sleep apnea, Hepatomegaly, Tricuspid regurgitation, Flexion contracture, Macrogl... OMIM:253200
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Neuroendocrine Tumor Of Stomach
Melena, Abnormal pulmonary valve cusp morphology, Hematemesis, Tricuspid regurgitation, Hepatomeg... ORPHA:100075
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricular function OMIM:132900
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Short stature, Hydrops fetalis, Recu... OMIM:253250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Single ventricle, Cardiorespiratory arrest, Pulmon... OMIM:619879
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Hepatic steatosis, Cardiomyopathy, Myopathy ORPHA:26792
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Tricuspid regurgitation, Short stature, Mitral valve prolapse, Aortic regur... OMIM:617402
Craniosynostosis 1
Systolic heart murmur, Aortic valve stenosis OMIM:123100
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Respiratory tract infe... ORPHA:70587
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Aortic valve stenosis, Atrial septal defect, Short stature, Camptodactyly ORPHA:459061
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Edema, Oligoh... OMIM:608104
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Desminopathy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... ORPHA:98909
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transa... OMIM:212140
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia... ORPHA:404443
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Decreased liver function, Pulmonic stenosis, Mitral regurgitation, C... ORPHA:70474
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening ORPHA:96190
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Ao... ORPHA:2306
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Paroxysmal dyspnea, Subar... ORPHA:91387
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Bicuspid aortic valve, Aortic valve stenosis, Short stature OMIM:243310
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Respiratory distress, Decreased liver function, Hepatomegaly, F... ORPHA:367
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... OMIM:193400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Ogden Syndrome
Apnea, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth reta... OMIM:300855
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... OMIM:205400
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Growth delay, Hypertrophic cardiomyopathy, Secundum atrial septal defect OMIM:619121
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Alg9-Cdg
Torticollis, Asthma, Hypoplasia of the musculature, Atrial septal defect, Tricuspid regurgitation... ORPHA:79328
Emanuel Syndrome
Multiple joint contractures, Intrauterine growth retardation, Aortic valve stenosis, Atrial septa... ORPHA:96170
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Asthma, Atrial septal defect, Aortic valve stenosis, Dysplastic p... OMIM:601808
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Microvesicular hepatic steatosis, Sudden cardiac death, Noncompa... OMIM:610198
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... OMIM:235200
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Right ventricular hypert... OMIM:613623
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Decreased liver function, Central sleep apnea, Hepatic steatosis, Hype... ORPHA:70472
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Abnormal myocardium morphology, Transient ischemic a... ORPHA:324
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Tetralogy of Fallot, Aor... ORPHA:96147
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Respiratory insufficiency due to muscle weakness, Flexion contracture, Hy... OMIM:310200
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Camptodactyly OMIM:301039
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Atrial septal defect, Recurrent infections due to a... ORPHA:70
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Cough, Heart murmur, Aortic regurgitation, Edema, Dyspnea, Congestive hea... ORPHA:1054
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Congenital diaphragmatic hernia, Atri... ORPHA:251071
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Hepatomegaly, ... ORPHA:84064
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Lower limb... ORPHA:1143
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... OMIM:609192
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Myopathy, Myofibrillar, 8
Nemaline bodies, Reduced vital capacity, Mitral regurgitation, Scapular winging, Joint contractur... OMIM:617258
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic st... OMIM:601186
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Patent foramen ovale OMIM:619967
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Dyspnea, Hypertension, Hypertrophic cardiomyopa... ORPHA:1349
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Tricuspid regurgitation, Atrioventricular canal defect OMIM:618929
Hurler Syndrome
Hepatomegaly, Flexion contracture, Macroglossia, Splenomegaly, Mitral regurgitation, Hepatospleno... OMIM:607014
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Short stature, Mitral regurgitation, Contracture of the distal interp... OMIM:607015
Indomethacin Embryofetopathy
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... ORPHA:1909
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Sm... OMIM:612562
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Left-to-right shunt, Camptodactyly, Pat... ORPHA:363444
Ogden Syndrome
Torticollis, Arrhythmia, Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis ORPHA:276432
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Recurrent upper respiratory tract infections, Disproportiona... OMIM:253010
Carcinoid Syndrome
Asthma, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Heart mur... ORPHA:100093
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Macroglossi... ORPHA:308552
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale OMIM:601450
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Dk1-Cdg
Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Elevated hep... ORPHA:91131
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Aortic valve stenosis, Chylothorax, Short stature, Mitral regurgitation, P... OMIM:613563
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... OMIM:619343
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Dehyd... ORPHA:2260
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Noonan Syndrome 13
Mitral valve prolapse, Lymphedema, Atrial septal defect, Mitral regurgitation OMIM:619087
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... OMIM:611812
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular sep... OMIM:609942
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Camptodactyly, Respiratory failure, Intrauterine growth retar... OMIM:618804
Mosaic Variegated Aneuploidy Syndrome
Apnea, Atrial septal defect, Short stature, Muscular dystrophy, Rhabdomyosarcoma, Abnormal lung l... ORPHA:1052
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... ORPHA:2255
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... OMIM:613001
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Cough, Periorbital edema, Edema, Dyspnea, Ac... ORPHA:3386
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Ventricular septal... OMIM:277600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... OMIM:619534
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Mitral regurgitation, Increased variabilit... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... OMIM:613156
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Tyshchenko Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:615102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... OMIM:609286
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Ventricular septal defect, Hyperventilation, Hypert... OMIM:618775
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... ORPHA:1055
Trisomy 17P
Intrauterine growth retardation, Aortic valve stenosis, Hypoplastic left heart, Macroglossia, Fle... ORPHA:261290
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Flexion contracture, Short stature, Patent foramen ovale, Intrauterine g... OMIM:618460
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Hypotension, Vasculitis, Shock, Pneumoni... ORPHA:70578
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hy... OMIM:613404
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Flexion contracture of ... ORPHA:2712
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Arterial tortuosity, A... OMIM:610168
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elevated hepatic transaminase, ... ORPHA:542323