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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat... 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
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial 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
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... 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
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... 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, Patent ductus arteriosus, Bic... OMIM:618845
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Descend... ORPHA:229
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... ORPHA:1926
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va... ORPHA:1880
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Meacham Syndrome
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... OMIM:608978
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ... ORPHA:555874
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibri... OMIM:620734
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thora... OMIM:616166
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Abnormal heart morp... ORPHA:363444
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Aortic aneurysm, Multiple muscular ventricular septal... OMIM:620070
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Abnormal aortic morphology, H... ORPHA:251071
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate... OMIM:618316
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Persistent left superior vena cava, Atrioventricular canal defect, Transposition of the great art... OMIM:314390
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve ... OMIM:612863
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, In... OMIM:618280
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... OMIM:612422
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... OMIM:620067
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... OMIM:135580
Mass Syndrome
Ascending aortic dissection, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Telangiectasia ORPHA:101028
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Patent fo... OMIM:265380
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat... ORPHA:402075
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Venou... ORPHA:90308
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Thoracic aorti... ORPHA:3093
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Carpenter Syndrome 1
Transposition of the great arteries, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteri... OMIM:201000
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Abnorma... ORPHA:392
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Patent ductus arteriosus OMIM:313850
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:2868
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Ventricular septal defect, Tetra... ORPHA:1166
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent... OMIM:158170
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:2412
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Noonan Syndrome 9
Pulmonic stenosis, Prolonged prothrombin time, Coarctation of aorta, Ventricular septal defect OMIM:616559
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspid regurgitation, Coarcta... ORPHA:1120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Aortic valve stenosis, Joint hemorrha... OMIM:193400
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Atrioventricular canal defect, Patent ductus arteriosus ORPHA:276413
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonic stenosis, Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atr... OMIM:301056
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic di... OMIM:619825
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Mitral valve prolapse, Cerebral berry aneurysm OMIM:173900
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Impaired clot ret... OMIM:273800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Coar... ORPHA:508498
Alg12-Cdg
Biventricular hypertrophy, Patent foramen ovale, Muscular ventricular septal defect, Patent ductu... ORPHA:79324
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:608779
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Epistaxis, Hemato... OMIM:175050
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve ORPHA:1724
Pericardial And Diaphragmatic Defect
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... ORPHA:2847
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Ascending ... ORPHA:284979
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Prolonged prothrombin time, Coarctation of aorta, Secundum atrial septal defect OMIM:614300
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri... OMIM:157800
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal vena cava morphology, Mitral stenosis, Tetralogy of Fallot, Patent... ORPHA:163956
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Hypoplastic left heart ORPHA:2001
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten... OMIM:609008
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Pulmonary artery stenosis, Tetralogy of Fallot, Double outle... OMIM:280000
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Holt-Oram Syndrome
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... OMIM:142900
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, M... OMIM:616564
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... OMIM:601005
Marfan Syndrome
Tricuspid valve prolapse, Dilatation of an abdominal artery, Aortic aneurysm, Aortic root aneurys... ORPHA:558
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, A... ORPHA:1600
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteri... OMIM:614857
Charge Syndrome
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Secundu... OMIM:214800
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Alagille Syndrome 2
Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:610205
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hypertension, Ventricular hypertroph... OMIM:208050
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Abnormal carotid artery morphology, Vascular dilatation, A... ORPHA:3342
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension OMIM:616069
Williams Syndrome
Abnormal endocardium morphology, Abnormal carotid artery morphology, Abnormal cerebral vascular m... ORPHA:904
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Cardiomegaly, Patent foramen o... OMIM:300855
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:618223
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Patent foramen ovale, Aortic isthmus hypoplasia, Coarct... OMIM:180849
Frank-Ter Haar Syndrome
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... OMIM:249420
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Coarctation of aorta, Hypoplastic left heart OMIM:301022
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Aortic root aneurysm, Ascending tubular a... OMIM:154700
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature arteriosclerosis, Aortic atherosclerotic lesion, Premature ... ORPHA:391665
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence o... OMIM:601808
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... OMIM:115470
Distal Deletion 15Q
Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left heart, Double outlet ... ORPHA:1596
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ve... ORPHA:363618
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla... OMIM:619503
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... ORPHA:2008
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Ventricular septal defect, Patent ductus arteriosus ORPHA:261337
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Patent foramen ovale, Coarctation of aorta, Tetralogy of Fall... OMIM:210710
Vater/Vacterl Association
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu... OMIM:192350
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology ORPHA:485405
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Cardiomegaly, Pulmonary arterial hypertension, Coarctation of aorta, ... OMIM:614921
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma... ORPHA:466791
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation OMIM:618929
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... OMIM:618494
Loeys-Dietz Syndrome 6
Arterial tortuosity, Vertebral artery aneurysm, Ventricular hypertrophy, Transient ischemic attac... OMIM:619656
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, Conotrunc... ORPHA:96147
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Patent ductus arteriosus, Atrial septal defect, ... OMIM:618371
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Microphthalmia, Syndromic 2
Dextrocardia, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve stenosis, Mitral valve pro... OMIM:300166
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic disse... ORPHA:1900
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Mitral valve prolapse, Dilated cardiomyopa... ORPHA:2556
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy, Patent foramen ovale, E... OMIM:607872
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Neu-Laxova Syndrome 1
Patent foramen ovale, Transposition of the great arteries, Ventricular septal defect, Patent duct... OMIM:256520
Restrictive Dermopathy
Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Patent ductu... ORPHA:1662
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A... OMIM:614816
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus OMIM:617260
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Right bundle branch block, P... OMIM:617506
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Aortic root aneurysm, Arteriovenous fistula, Arterial dissection, Mitra... ORPHA:287
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Arrhythmia, Abno... ORPHA:991
Aneurysm-Osteoarthritis Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Aortic regurgitation, Patent ductus arter... ORPHA:284984
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios... OMIM:614976
Toriello-Carey Syndrome
Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arter... ORPHA:3338
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Pulmonic stenosis, Varicose veins, Aortic dissection, Vascular dilatation OMIM:618343
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Pentalogy Of Cantrell
Abnormal pericardium morphology, Atrial septal defect, Ventricular septal defect, Tetralogy of Fa... ORPHA:1335
Kawasaki Disease
Myocarditis, Abnormal heart valve morphology, Vasculitis, Ascending tubular aorta aneurysm, Doubl... ORPHA:2331
Kabuki Syndrome 2
Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect, Coarctation of aorta OMIM:300867
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subv... OMIM:614114
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:617159
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra... ORPHA:95430
Kleefstra Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic... ORPHA:261494
Feingold Syndrome 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Ventric... OMIM:164280
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217085
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217093
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Simpson-Golabi-Behmel Syndrome, Type 1
Transposition of the great arteries, Cardiomyopathy, Total anomalous pulmonary venous return, Pul... OMIM:312870
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Fg Syndrome Type 1
Coarctation of aorta, Atrial septal defect, Mitral valve prolapse, Pulmonary arterial hypertension ORPHA:93932
Noonan Syndrome
Patent ductus arteriosus, Abnormal platelet function, Hypertrophic cardiomyopathy, Pulmonary arte... ORPHA:648
Gabriele-De Vries Syndrome
Patent foramen ovale, Ebstein anomaly of the tricuspid valve ORPHA:506358
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hy... OMIM:620025
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... ORPHA:2473
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Lymphedema-Distichiasis Syndrome
Varicose veins, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:153400
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormal tricuspid valve morp... ORPHA:192
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:300514
Oculoectodermal Syndrome
Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arter... OMIM:600268
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal cardia... ORPHA:2059
Mosaic Trisomy 16
Atrial septal defect, Coarctation of aorta, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:1708
Phace Syndrome
Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Abnormal heart mo... ORPHA:42775
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Tetralogy of Fallot, Atrial sept... ORPHA:1507
Lowry-Maclean Syndrome
Coarctation of aorta, Atrioventricular canal defect ORPHA:2409
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta, Atrial septal defect, Sub... ORPHA:1052
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Left ventricular systolic dysfunction, Stroke, Hypertension, Weak pul... ORPHA:51608
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:617602
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Pulmonary arterial hypertension, Coarctation of aorta, Patent ductus arteri... OMIM:618454
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta OMIM:105650
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissect... OMIM:300989
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent foramen ovale, Hypertrophic cardiomyopathy, Coarctation of aorta,... ORPHA:17
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Holoprosencephaly
Abnormal aortic morphology, Tetralogy of Fallot, Arrhythmia, Ventricular septal defect, Abnormal ... ORPHA:2162
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Patent ductus ar... OMIM:139210
Alport Syndrome
Hypertension, Abnormal aortic morphology, Renal glomerular foam cells, Aortic aneurysm ORPHA:63
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Coarctation of aorta, Abnormal hea... ORPHA:97360
Opitz Gbbb Syndrome
Aortic root aneurysm, Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Cardiac conduction abnormality, A... ORPHA:353281
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis ORPHA:100078
Geleophysic Dysplasia 1
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis OMIM:231050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Tricuspid stenosis, Pulmonic stenosis, Aortic valve stenosis, Mitral ste... OMIM:143095
17Q11 Microdeletion Syndrome
Stroke, Hypertension, Renal artery stenosis, Hypertrophic cardiomyopathy, Pulmonary arterial hype... ORPHA:97685
Hardikar Syndrome
Hematemesis, Patent ductus arteriosus, Patent foramen ovale, Hypertension, Portal hypertension, P... OMIM:301068
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Coarctation of aorta, Left ventr... OMIM:220111
Autosomal Dominant Cutis Laxa
Congestive heart failure, Aortic regurgitation, Aortic aneurysm, Coarctation of aorta, Dilatation... ORPHA:90348
Mosaic Trisomy 1
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia ORPHA:1692
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi... ORPHA:141127
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal aortic valve morphology, Abnormal aortic arch morphology, Varicose ve... ORPHA:567
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Abnormal heart valve morphology,... ORPHA:286
Loeys-Dietz Syndrome
Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Cardiac arrest, Arterial dissection, A... ORPHA:60030
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Degcags Syndrome
Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, Persistent lef... OMIM:619488
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Hypoplastic aortic arch, Truncus arte... ORPHA:508488
Galloway-Mowat Syndrome 3
Coarctation of aorta, Hypertension OMIM:617729
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis ORPHA:100079
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, A... OMIM:163950
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Ctcf-Related Neurodevelopmental Disorder
Pulmonary arterial hypertension, Coarctation of aorta, Patent ductus arteriosus, Atrial septal de... ORPHA:363611
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten... ORPHA:353277
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Ehlers-Danlos Syndrome, Vascular Type
Arterial rupture, Descending aortic dissection, Ascending aortic dissection, Mitral valve prolaps... OMIM:130050
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta, Ventricular septal defect, Hypoplastic left heart ORPHA:2308
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99226
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Ventricular septal defect ORPHA:268249
Orofaciodigital Syndrome Vi
Coarctation of aorta, Hypoplastic left heart OMIM:277170
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Bicuspid aortic valve, Coarctation of aorta, Prolonged QT interval ORPHA:1772
Femoral-Facial Syndrome
Truncus arteriosus, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, Ventricula... OMIM:134780
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Art... ORPHA:666
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosu... OMIM:274000
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis ORPHA:449395
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Atrioventricular canal defect, Patent ductus arteriosus OMIM:619480
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Mitral regurgitation, Tricuspid regurgitation, Patent ductus arteriosus OMIM:614557
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Coarctation of aorta, Patent... OMIM:270400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Atrioventricular canal defect, Patent ductus arteriosus OMIM:617088
Diamond-Blackfan Anemia
Coarctation of aorta, Abnormal heart morphology, Atrial septal defect, Ventricular septal defect,... ORPHA:124
Alagille Syndrome 1
Stroke, Renal artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, V... OMIM:118450
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Esophageal Atresia
Coarctation of aorta, Ventricular septal defect, Tetralogy of Fallot ORPHA:1199
Kabuki Syndrome
Coarctation of aorta, Abnormal cardiac septum morphology ORPHA:2322
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus, Abnormal cardiac septum morp... OMIM:249000
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Wiedemann-Rautenstrauch Syndrome
Pulmonic stenosis, Congenital malformation of the left heart, Prominent scalp veins, Dysplastic p... ORPHA:3455
Floating-Harbor Syndrome
Persistent left superior vena cava, Atrial septal defect, Mesocardia, Coarctation of aorta OMIM:136140
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Tetralogy of Fallot, Persistent left superior vena cava, Atrial... ORPHA:2044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Abnormality of the pulmonary artery, Hyphema, Aortic valve stenosis, Pulm... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Abnormal heart morphology, Tetral... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Abnormality of the pulmonary artery, Pulmonic stenosis, Aortic valve sten... ORPHA:261537
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Pallister-Hall Syndrome
Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defe... ORPHA:672
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Pallister-Killian Syndrome
Stillbirth, Hypertrophic cardiomyopathy, Aortic valve stenosis, Coarctation of aorta, Patent duct... OMIM:601803
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Craniofacial Microsomia 1
Right aortic arch, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricul... 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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