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Gene: Smad6 MGI:1336883

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SMAD family member 6
Synonyms:
Smad 6,  b2b390Clo,  Madh6

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Smad6 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 Smad6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Craniosynostosis 7
OMIM:617439
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
OMIM:179300

The table below shows human diseases predicted to be associated to Smad6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... ORPHA:1926
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... OMIM:618316
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis OMIM:619433
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Persistent left superior vena cava, Transposition of... OMIM:314390
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Transaldolase Deficiency
Atrial septal defect, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta ORPHA:101028
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Mitral valve prolapse, Gastroint... OMIM:193400
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmia ORPHA:230839
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries OMIM:313850
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... ORPHA:2847
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary... ORPHA:2414
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary ven... ORPHA:1120
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... OMIM:615355
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... OMIM:615415
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Cap Myopathy
Aortic root aneurysm, Reduced systolic function, Sinus tachycardia, Mitral valve prolapse ORPHA:171881
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... OMIM:301056
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent ductus arteriosus, Patent f... ORPHA:79324
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Camurati-Engelmann Disease, Type 2
Mitral regurgitation, Mitral valve prolapse OMIM:606631
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:608779
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Classic Multiminicore Myopathy
Congestive heart failure, Mitral valve prolapse, Right ventricular failure, Right ventricular hyp... ORPHA:324604
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:284979
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia OMIM:620141
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... ORPHA:163956
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Congenital Tricuspid Stenosis
Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral regurgitation, Mitral valve prolapse ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... OMIM:614857
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... OMIM:606003
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:214800
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Pulmonary artery ... ORPHA:3342
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,... OMIM:180849
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... ORPHA:397
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Williams Syndrome
Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V... ORPHA:904
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Homozygous Familial Hypercholesterolemia
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... ORPHA:391665
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... OMIM:231005
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pul... OMIM:608149
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... OMIM:619503
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral regurgitation, Mitral valve prolapse ORPHA:2848
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... OMIM:210710
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Central Core Disease
Mitral valve prolapse ORPHA:597
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta OMIM:618929
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... OMIM:609029
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Stroke, Myocardial infarction, Mitral valve prolapse OMIM:236200
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium ORPHA:96168
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... OMIM:610168
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... OMIM:618494
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Vater/Vacterl Association
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... ORPHA:96147
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Hypertension, Dilatation of the cerebral artery, Aortic root aneurysm, Abn... ORPHA:730
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... OMIM:614816
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... ORPHA:2331
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... OMIM:618371
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture, Mitral valve prolapse, Aortic dissection, Arterial di... ORPHA:1900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:258450
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... ORPHA:96170
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... ORPHA:2712
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Transposition of the g... OMIM:256520
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... ORPHA:1662
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Robinow Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Pulmonic stenosis, At... ORPHA:97360
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Mitral valve prolapse OMIM:247410
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Pagod Syndrome
Sudden cardiac death, Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morpho... ORPHA:991
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Congenital Contractural Arachnodactyly
Mitral valve prolapse, Aortic aneurysm ORPHA:115
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Abnorma... ORPHA:284984
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... ORPHA:287
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Atelis Syndrome 2
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Pentalogy Of Cantrell
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... ORPHA:1335
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Watson Syndrome
Pulmonic stenosis OMIM:193520
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217085
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Mitral valve prolapse, Coarctation of aorta ORPHA:93932
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Degcags Syndrome
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena c... OMIM:619488
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217093
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... OMIM:312870
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse OMIM:130000
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
Marfan Syndrome
Mitral valve calcification, Congestive heart failure, Descending aortic dissection, Dilatation of... ORPHA:558
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis OMIM:619148
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... OMIM:620233
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... ORPHA:1708
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Abnormal T-wave, Mitral valve prolapse ORPHA:444072
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnorma... ORPHA:2059
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta OMIM:105650
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... ORPHA:1507
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aortic stenos... ORPHA:1052
Osteogenesis Imperfecta, Type I
Mitral valve prolapse, Aortic aneurysm OMIM:166200
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo... ORPHA:90068
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Keutel Syndrome
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... OMIM:245150
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyp... OMIM:618454
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Arrhy... ORPHA:2162
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... ORPHA:97685
Opitz Gbbb Syndrome
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, ... ORPHA:2745
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Kleefstra Syndrome 1
Conotruncal defect OMIM:610253
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Pulmonary artery stenosis, Patent du... OMIM:301068
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Atypical Werner Syndrome
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, A... ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ... OMIM:220111
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis ORPHA:100079
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:1692
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul... ORPHA:3455
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Mitral valve prolapse ORPHA:369950
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni... ORPHA:536471
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... ORPHA:286
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, Atrial septal de... OMIM:218040
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... ORPHA:567
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:182212
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root an... ORPHA:536467
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Galloway-Mowat Syndrome 3
Hypertension, Coarctation of aorta OMIM:617729
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... ORPHA:438213
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta ORPHA:2308
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Coarctation of aorta OMIM:277170
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... ORPHA:363611
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Myocard... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Myocard... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Myocard... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Myocard... ORPHA:99226
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Helsmoortel-Van Der Aa Syndrome
Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitation, Atrial sept... OMIM:615873
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:619480
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:274000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Tricuspid regurgitation, Mitral regurgitation, Aortic rupture OMIM:614557
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Neurooculorenal Syndrome
Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro... OMIM:620305
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:617088
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Atrial s... OMIM:270400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... ORPHA:500095
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta ORPHA:1199
Kabuki Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta ORPHA:2322
Meckel Syndrome, Type 1
Patent ductus arteriosus, Abnormal cardiac septum morphology, Vascular dilatation, Coarctation of... OMIM:249000
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Stickler Syndrome
Arrhythmia, Mitral valve prolapse ORPHA:828
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Tetralogy of ... ORPHA:261537
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Ab... ORPHA:2152
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val... OMIM:601803
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... OMIM:164210
Craniosynostosis 7
OMIM:617439
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
OMIM:179300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smad6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smad6.

No publications found that use IMPC mice or data for Smad6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Smad6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smad6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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