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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
Mitral regurgitation, Coarctation of aorta, Pulmonic stenosis, Aortic aneurysm, Calcification of ... OMIM:614823
Familial Bicuspid Aortic Valve
Coarctation of aorta, Hypoplastic left heart, Abnormal left ventricular outflow tract morphology,... 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, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect OMIM:614474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Conotruncal Heart Malformations
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... OMIM:217095
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
16P13.11 Microduplication Syndrome
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Aorta Coarctation
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... ORPHA:1457
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... ORPHA:1461
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
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... 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
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... ORPHA:860
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricu... ORPHA:1354
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... 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
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... OMIM:208530
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Overriding aorta, Patent ductus arteriosus, Vasc... OMIM:601927
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Hypoplastic left heart, Doubl... OMIM:618845
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... OMIM:619702
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Tetralogy of Fallot, Aortic aneurysm, Subvalvular aortic stenosis, Bic... OMIM:614980
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... OMIM:619371
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Cardiac Valvular Dysplasia 1
Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr... OMIM:212093
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
Fetal Trimethadione Syndrome
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... ORPHA:1913
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... ORPHA:99050
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Partial Atrioventricular Septal Defect
Coarctation of aorta, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomal... ORPHA:1330
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Ascending aortic dissection, Mucoid e... ORPHA:229
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Coarctation of aorta, Left ventricular noncompaction, Perimembrano... OMIM:613426
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... OMIM:607941
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm, Abnormal heart morphology, Over... ORPHA:477817
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Pulmonic stenosis, Tetralogy of Fallot, Absence of t... OMIM:618780
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Cardiac Diverticulum
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:1686
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Scimitar Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... ORPHA:185
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Bilateral superi... OMIM:605376
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect OMIM:614435
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Cerebral cavernous malformation, Aortic root aneurysm, Transpositi... OMIM:619910
Truncus Arteriosus
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... OMIM:614676
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... OMIM:619657
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Left ventricu... OMIM:108900
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Abnormal coronary artery morphology, Subarterial ventricular... ORPHA:99094
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pu... ORPHA:1926
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Congenital Gerbode Defect
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Abnormal tricuspid valve le... ORPHA:99095
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Imperforate tricuspid valve, Ebstein anomaly of the tricuspid valve, Patent... ORPHA:1880
Meacham Syndrome
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch, Atrial septal defe... OMIM:608978
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... OMIM:606217
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Coarctation of aorta, Hypoplastic left heart, Tetralo... ORPHA:3097
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral atresia, Hypoplastic aortic arch, Patent duc... ORPHA:2248
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Coarctation of aorta, Atrial septal defect, Ventricular septal def... OMIM:600987
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... OMIM:185500
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted aortic arch, ... ORPHA:1727
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular... OMIM:220210
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... OMIM:616201
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Right atrial enlargement, ... ORPHA:555874
Cardiac Valvular Dysplasia 2
Left ventricular diastolic dysfunction, Pulmonary artery dilatation, Systolic heart murmur, Pulmo... OMIM:620067
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries OMIM:617877
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, Tr... OMIM:115197
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double o... OMIM:179613
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... OMIM:610338
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Persistent left superior vena cava, Abnormal heart morphology, Tetralogy of... OMIM:614954
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypoplas... OMIM:600001
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Pulmonic stenosis ORPHA:2868
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Atrial septal dil... OMIM:108800
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Double Outlet Right Ventricle
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... ORPHA:3426
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... ORPHA:216694
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Aortic Valve Disease 3
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... OMIM:618496
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, Atrial fibrillation... OMIM:616166
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Atrioventricular canal d... OMIM:306955
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension, Abnormal aortic morphology ORPHA:3222
Aortic Valve Disease 2
Mitral regurgitation, Coarctation of aorta, Pulmonic stenosis, Aortic aneurysm, Calcification of ... OMIM:614823
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
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
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Abnormal heart morphology, Muscul... ORPHA:363444
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Aortic v... ORPHA:228410
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:618205
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... OMIM:618619
Aortic Arch Interruption
Left ventricular hypertrophy, Ventricular septal defect, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... OMIM:314400
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Atrial... OMIM:270100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect, Pulmonary artery sten... ORPHA:251071
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, D... OMIM:618316
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septa... OMIM:620070
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Primary Ciliary Dyskinesia
Situs inversus totalis, Atrial situs ambiguous, Abnormal heart morphology, Double outlet right ve... ORPHA:244
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defect, Right ventricular d... OMIM:612863
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Ebstein anomaly of the tricuspid valve, Dilated ca... OMIM:611878
Nephronophthisis 16
Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Hyper... OMIM:615382
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Persistent left superior vena cava, Transposition of... OMIM:314390
Aortic Aneurysm, Familial Thoracic 8
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... OMIM:615436
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Right atrial enlargemen... OMIM:612422
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... ORPHA:91387
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis, Tricuspid regurgitation OMIM:619433
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Atrial septal defec... OMIM:618280
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Intermittent claudication, Aortic dissection, Myocardia... OMIM:135580
Pseudoxanthoma Elasticum
Stroke, Hypertension, Intermittent claudication, Weak pulse, Accelerated atherosclerosis, Angina ... OMIM:264800
Mass Syndrome
Aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection OMIM:604308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:265380
Aortic Aneurysm, Familial Thoracic 6
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... OMIM:611788
Thakker-Donnai Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Ventricular septal defect ORPHA:1780
Sarcosinemia
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Familial Bicuspid Aortic Valve
Coarctation of aorta, Hypoplastic left heart, Abnormal left ventricular outflow tract morphology,... ORPHA:402075
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... ORPHA:3093
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hypertension, Mitral regurgitation, Cerebral berry aneurysm OMIM:173900
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Atrial septal defect, Pulmonary embolism,... ORPHA:90308
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve, Dou... ORPHA:371428
Von Willebrand Disease, Type 1
Joint hemorrhage, Impaired platelet aggregation, Gastrointestinal hemorrhage, Aortic valve stenos... OMIM:193400
15Q11.2 Microdeletion Syndrome
Coarctation of aorta, Atrial septal defect, Total anomalous pulmonary venous return, Tetralogy of... ORPHA:261183
Noonan Syndrome 11
Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:618499
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Aortic regurgitation, Persistent... OMIM:609008
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Tetralogy of ... ORPHA:210122
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Interrup... OMIM:617478
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... ORPHA:2255
Yuan-Harel-Lupski Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... ORPHA:392
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... OMIM:612561
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Tricuspid stenosis, Patent ductus arteriosus,... ORPHA:391641
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Arrhythmia, Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse ORPHA:230839
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
Coronary artery calcification, Mitral regurgitation, Reduced left ventricular ejection fraction, ... OMIM:614473
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Thoracoabdominal Syndrome
Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Carpenter Syndrome 1
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent d... OMIM:201000
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetralogy of Fallot, Ventricular... ORPHA:1166
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Down Syndrome
Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defe... OMIM:190685
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Supravalvar pulmonary ste... OMIM:618164
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614262
Loeffler Endocarditis
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... ORPHA:75566
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Patent ductus arteriosus, Ventric... OMIM:158170
Maternal Phenylketonuria
Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Abn... ORPHA:2209
Noonan Syndrome 9
Prolonged prothrombin time, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Double outlet right ventricle, A... OMIM:615067
Monosomy 18Q
Secundum atrial septal defect, Mitral regurgitation, Dysplastic pulmonary valve, Aortic aneurysm,... ORPHA:1600
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnormal heart morphology, Bicuspid aort... ORPHA:2847
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Abnormal coronary artery morphology, Systolic hear... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Coarctation of aorta, Ventricular s... ORPHA:99125
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Chylopericardium, Tricuspid regurgitation, Co... ORPHA:2414
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ve... ORPHA:284169
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Atrial septal defect, Atrioventricular canal defect, Tricuspid regurgitatio... ORPHA:1120
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Arterial intimal fibrosis, Hyper... OMIM:178600
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Histiocytoid cardiomyopathy, Ventricular septal defect OMIM:309801
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:2412
Noonan Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Tricuspid valve prolapse, Pat... OMIM:609942
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hadziselimovic Syndrome
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, V... OMIM:612946
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
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
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:617349
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, Patent duct... OMIM:619149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Transpositi... OMIM:253800
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
Dysplastic pulmonary valve, Atrial septal defect, Ventricular septal defect, Dysplastic aortic va... OMIM:601808
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Peripheral pulmonary ... OMIM:610205
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Arteriosclerosis, Medial calc... OMIM:177850
Noonan Syndrome 8
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Left ve... OMIM:615355
Craniofaciofrontodigital Syndrome
Stroke, Pulmonary arterial hypertension, Abnormal cerebral vascular morphology, Mitral regurgitat... ORPHA:363705
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Hypertension, Sudden cardiac death, Angina pectoris, Restr... ORPHA:758
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification... OMIM:208000
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Intracranial he... ORPHA:99147
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation OMIM:225320
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Stillbirth, Aortic valve stenosis, Hypertrophic cardio... OMIM:615415
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... ORPHA:231160
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse, Patent ductus arteriosus ORPHA:276413
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ... ORPHA:324410
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:615279
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Mitral valve prolapse, Aortic root aneurysm ORPHA:171881
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneury... OMIM:619825
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Pulmonary artery atresia, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Pulmonary insufficiency, Rig... ORPHA:555877
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Thoracic aort... OMIM:613834
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Mitral regurgitation OMIM:606631
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Atrioventricular canal defe... ORPHA:508498
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Glanzmann Thrombasthenia 1
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impai... OMIM:273800
Alg12-Cdg
Patent ductus arteriosus, Muscular ventricular septal defect, Patent foramen ovale, Biventricular... ORPHA:79324
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Prolonged prothrombin time, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:608779
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect OMIM:616145
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Pulmonary arteriovenous malformation, Hematochezia, Mitral regurgitation, Hepatic arterio... OMIM:175050
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect ORPHA:1724
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Ventricular septal defect, Atrial septal defec... OMIM:619343
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy, Congestive heart failure, Right ventricular... ORPHA:324604
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morpholo... ORPHA:2396
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse, Mitral regurgitation ORPHA:3238
Developmental Delay, Language Impairment, And Ocular Abnormalities
Facial telangiectasia, Pulmonic stenosis OMIM:620141
Neonatal Marfan Syndrome
Aortic root aneurysm, Tricuspid valve prolapse, Ascending tubular aorta aneurysm, Mitral valve pr... ORPHA:284979
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Tetralogy of Fallot, Ventricular se... ORPHA:3474
Cardiospondylocarpofacial Syndrome
Dysplastic tricuspid valve, Atrial septal defect, Ventricular septal defect, Hypoplastic aortic a... OMIM:157800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Mitral regurgitation, Coarctation of aorta, Ventricular septal def... OMIM:620066
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Coarctation of aorta, Atrial septal defect, Perimembranous ventricular septal defect, Muscular ve... OMIM:612474
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Left ventr... OMIM:617168
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Ventricular septal defect, Abnormal vena cava morphology, Peripheral pulmona... ORPHA:163956
3C Syndrome
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Atrioventri... ORPHA:7
Noonan Syndrome 10
Mitral regurgitation, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Atrial ... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Ventricu... OMIM:601186
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Pulmonic stenosis, Arrhythmia, Atrioventricular canal defect... ORPHA:500
Congenital Tricuspid Stenosis
Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Tetralogy of Fallot, Subvalvular aortic stenosis, Peripheral pulmonary... OMIM:280000
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral valve prolapse, Mitral regurgitation ORPHA:309155
Noonan Syndrome 2
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:605275
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Transaldolase Deficiency
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Telangiectasia, Patent for... OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Coarctation of aorta, Patent ductus arteriosus, Atrial septal de... OMIM:614857
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, C... OMIM:601005
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Ventricular septal defect, Double outlet right ventricle, Patent foramen ... OMIM:301043
Charge Syndrome
Dysplastic tricuspid valve, Secundum atrial septal defect, Pulmonary artery atresia, Pulmonic ste... OMIM:214800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Mitral regurgitation, Patent foramen ovale OMIM:615539
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Hypertension, Aortic regu... OMIM:208050
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Aortic root aneurysm, Aortic aneurysm, Telangiectasia of the skin, H... ORPHA:3342
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Ogden Syndrome
Secundum atrial septal defect, Left atrial enlargement, Ventricular septal defect, Atrial septal ... OMIM:300855
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Noonan Syndrome 5
Atrial septal defect, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:611553
Rubinstein-Taybi Syndrome 1
Coarctation of aorta, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Pe... OMIM:180849
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormality of the pulmonary veins, Abnormal cardiac atrium morphology, Abnor... ORPHA:2306
Holoprosencephaly 14
Aortic valve atresia, Double outlet right ventricle, Ventricular septal defect OMIM:619895
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Double outlet rig... OMIM:249420
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect OMIM:618223
Williams Syndrome
Stroke, Abnormal cerebral vascular morphology, Pulmonic stenosis, Tetralogy of Fallot, Ventricula... ORPHA:904
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Coarctation of aorta, Hypoplastic left heart OMIM:301022
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal heart morphology, Transposition of the great arteries ORPHA:1505
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:908
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Homozygous Familial Hypercholesterolemia
Aortic atherosclerotic lesion, Mitral regurgitation, Abnormal internal carotid artery morphology,... ORPHA:391665
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... ORPHA:363618
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Bicu... OMIM:121050
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Cardiac-Valvular Ehlers-Danlos Syndrome
Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Left ventricular hypertrophy, A... ORPHA:230851
Geleophysic Dysplasia 2
Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis OMIM:614185
Marfan Syndrome
Pulmonary artery dilatation, Aortic root aneurysm, Mitral annular calcification, Tricuspid valve ... OMIM:154700
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventricular septal defe... OMIM:608149
Cat Eye Syndrome
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular... OMIM:115470
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Mitral valve prolapse, Pericarditis, Mitral regurgitation ORPHA:2848
Acrocardiofacial Syndrome
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trunc... ORPHA:2008
Cardiofaciocutaneous Syndrome 4
Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy OMIM:615280
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Distal Deletion 15Q
Coarctation of aorta, Hypoplastic left heart, Mitral atresia, Abnormal aortic arch morphology, Bi... ORPHA:1596
Noonan Syndrome 6
Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613224
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery, Ventricular septal defect, Pa... OMIM:600460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Muscu... OMIM:210710
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Pulmonary arterial hypertension, Coarctation of aorta, Ventricular se... OMIM:614921
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia, Hy... OMIM:619503
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Coronary artery atheroscleros... ORPHA:435638
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Atrial septal defect, Arterial tortuosity, Bicuspid aortic valve, Bicuspid ... OMIM:609192
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Patent ductus arteriosus, Ventricular septal defect ORPHA:261337
Central Core Disease
Mitral valve prolapse ORPHA:597
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Hypertension, Aortic root aneurysm ORPHA:449291
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Emanuel Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic valve stenosis, Patent... OMIM:609029
Monosomy 13Q34
Prolonged prothrombin time, Hematochezia, Pulmonic stenosis, Epistaxis, Common atrium ORPHA:96168
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Ventricular septal defect, Atrial septal defe... OMIM:602782
Loeys-Dietz Syndrome 2
Dilatation of mesenteric artery, Descending aortic dissection, Aortic root aneurysm, Atrial septa... OMIM:610168
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Tricuspid valve prolapse, Venous insufficiency ORPHA:2346
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Mitral valve prolapse, Stroke OMIM:236200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta, Tricuspid regurgitation OMIM:618929
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Abnormal heart morphology, Atrial septal defect ORPHA:485405
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology,... OMIM:618494
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pulmonic stenosis, Atrial septal defect OMIM:618282
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal left ventricle morphology, Ventricul... ORPHA:466791
Vater/Vacterl Association
Transposition of the great arteries, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular s... OMIM:192350
Ileal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... ORPHA:100077
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Abnormal systemic arterial morphology, Hypertension, Dilatation of the cere... ORPHA:730
Phace Association
Coarctation of aorta, Ventricular septal defect, Aortic aneurysm, Anomalous branches of internal ... OMIM:606519
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Arterial tortuosity, Bicuspid aortic valve, Ascending tubular aorta aneurys... OMIM:614816
Noonan Syndrome 7
Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613706
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Pseudotrisomy 13 Syndrome
Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Complete atr... OMIM:264480
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Tetralogy of Fallot, Aortic regurgitation, Aortic valve... ORPHA:96147
Boudin-Mortier Syndrome
Mitral valve prolapse, Aortic root aneurysm OMIM:619543
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation OMIM:226100
Turnpenny-Fry Syndrome
Atrial septal defect, Carotid artery tortuosity, Tricuspid valve prolapse, Patent ductus arterios... OMIM:618371
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Kawasaki Disease
Myocarditis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defec... ORPHA:2331
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Mitral stenosis, Hypoplastic left heart, Atrial septal defect OMIM:617660
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic aneurysm, Arterial dissection, Vascular dilatation, Congestive heart failure, Aortic disse... ORPHA:1900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mitral valve prolapse, Cardiomyopathy, Mitral regurgitation OMIM:258450
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal de... OMIM:100300
Emanuel Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic valve stenosis, Patent... ORPHA:96170
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Aortic root aneurysm, Tetralogy of Fallot, Ventricular septal defec... OMIM:607872
Oculofaciocardiodental Syndrome
Mitral valve prolapse, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, ... ORPHA:2712
Microphthalmia, Syndromic 2
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypoplastic aor... OMIM:300166
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus OMIM:617260
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Noonan Syndrome 4
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:610733
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pat... OMIM:618748
Noonan Syndrome 14
Mitral valve prolapse, Aortic regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:619745
Melnick-Needles Syndrome
Mitral valve prolapse, Tricuspid valve prolapse OMIM:309350
Feingold Syndrome 1
Ventricular septal defect, Interrupted aortic arch, Patent ductus arteriosus, Tricuspid stenosis,... OMIM:164280
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Patent ductus arteriosus, Ventricular ... OMIM:256520
Weill-Marchesani Syndrome 1
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Patent... OMIM:277600
Restrictive Dermopathy
Dextrocardia, Atrial septal defect, Ascending tubular aorta aneurysm, Patent ductus arteriosus, T... ORPHA:1662
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Pulmonary lymphangiectasia OMIM:247410
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prola... ORPHA:2556
Acitretin/Etretinate Embryopathy
Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Loeys-Dietz Syndrome 3
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, M... OMIM:613795
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart, Arrhythmia, Pulmonary artery hypoplasia, Sudden c... ORPHA:991
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta, Ventricular septal defect ORPHA:2876
Viss Syndrome
Atrial septal defect, Ventricular septal defect, Left aortic arch with retroesophageal right subc... OMIM:619472
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Mitral regurgitation, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Atrial ... OMIM:617506
Congenital Contractural Arachnodactyly
Aortic aneurysm, Mitral valve prolapse ORPHA:115
Duodenal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Melena, Hema... ORPHA:100076
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Cardiac conduction abnormality, Congestive heart failure... ORPHA:70474
Aneurysm-Osteoarthritis Syndrome
Dilatation of the sinus of Valsalva, Mitral regurgitation, Pulmonic stenosis, Left ventricular hy... ORPHA:284984
Robinow Syndrome
Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Pulmona... ORPHA:97360
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal ... OMIM:612562
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Aortic dissection, Pulmonic stenosis, Varicose veins OMIM:618343
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Tricuspid valve prolapse, Arteriovenous fistula, Arterial dissection, Dilat... ORPHA:287
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect OMIM:300867
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect 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
Non Rare In Europe: Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Hypertension ORPHA:1306
Carpenter Syndrome 2
Situs inversus totalis, Dextrocardia, Atrial septal defect, Patent ductus arteriosus, Transpositi... OMIM:614976
Hunter-Macdonald Syndrome
Mitral regurgitation, Hypertension, Aortic regurgitation, Bicuspid aortic valve, Patent ductus ar... OMIM:611962
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Hypertension, Aortic root aneurysm OMIM:616914
Velocardiofacial Syndrome
Pulmonary artery atresia, Right aortic arch with mirror image branching, Tetralogy of Fallot, Ven... OMIM:192430
Noonan Syndrome 13
Mitral valve prolapse, Mitral regurgitation, Atrial septal defect OMIM:619087
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Paten... OMIM:617159
Pentalogy Of Cantrell
Atrial septal defect, Tetralogy of Fallot, Abnormal pericardium morphology, Ventricular septal de... ORPHA:1335
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosi... OMIM:614114
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pulmonary arterial hypertension, Mitral regurgitation, Pulmonic st... OMIM:612541
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Arrhythmia, Cardiomyopathy, Abnormal mitral valve morphology... ORPHA:580
Weill-Marchesani Syndrome 2
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Conges... OMIM:608328
Kleefstra Syndrome
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Bicuspid aortic... ORPHA:261494
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Mitral valve prolapse, Aortic regurgitation, Abnormal heart... ORPHA:85438
Watson Syndrome
Pulmonic stenosis OMIM:193520
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Pulmonic stenosis, Atrial septal defect, Mitral atresia, Ventricular se... OMIM:614609
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Arrhythmia, Cardiomyopathy, Hypertension, Abnormal mitral va... ORPHA:217085
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Congenital Tracheomalacia
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiome... ORPHA:95430
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Arrhythmia, Cardiomyopathy, Hypertension, Abnormal mitral va... ORPHA:217093
Fg Syndrome Type 1
Mitral valve prolapse, Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect ORPHA:93932
Koolen-De Vries Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Aortic root aneurysm, Bicuspi... OMIM:610443
Degcags Syndrome
Pulmonary arterial hypertension, Dysplastic pulmonary valve, Pulmonic stenosis, Ventricular septa... OMIM:619488
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Patent... OMIM:610759
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse, Aortic root aneurysm OMIM:130000
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Aortic root aneurysm, Ventricular septal defect, Aortopulmonary ... OMIM:620025
Simpson-Golabi-Behmel Syndrome, Type 1
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Total anomalous pulmonary ven... OMIM:312870
Geleophysic Dysplasia 1
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis OMIM:231050
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse, Prominent superficial veins, Aortic root aneurysm, Carotid artery stenosis OMIM:618000
Marfan Syndrome
Pulmonary artery dilatation, Descending aortic dissection, Arterial dissection, Mitral valve calc... ORPHA:558
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Igg4-Related Aortitis
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Dilated left subclavian arte... ORPHA:449400
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
Brittle Cornea Syndrome
Mitral valve prolapse, Pulmonic stenosis ORPHA:90354
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Left ventricular hypertrophy OMIM:619148
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mitral valve prolapse, Pulmonary arterial hypertension, Right atrial enlargement, Tricuspid regur... OMIM:620233
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Pat... ORPHA:2473
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Lymphedema-Distichiasis Syndrome
Varicose veins, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Coffin-Lowry Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormal aortic valve morp... ORPHA:192
Oculoectodermal Syndrome
Coarctation of aorta, Atrial septal defect, Transient ischemic attack, Patent ductus arteriosus, ... OMIM:600268
Diamond-Blackfan Anemia 1
Atrial septal defect, Coarctation of aorta, Tricuspid stenosis, Ventricular septal defect OMIM:105650
Cerebellar-Facial-Dental Syndrome
Mitral valve prolapse, Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect ORPHA:444072
Mosaic Trisomy 16
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Single coronary artery ori... ORPHA:1708
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aortic morphology, ... ORPHA:2059
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Phace Syndrome
Coarctation of aorta, Aortic root aneurysm, Tetralogy of Fallot, Abnormal carotid artery morpholo...