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Genes Phenotypes Help, News, Blog

Gene: Ccn1 MGI:88613

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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:
cellular communication network factor 1
Synonyms:
Cyr61,  CCN1

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 Ccn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Conotruncal Heart Malformations
Double outlet right ventricle, Complete atrioventricular canal defect, Truncus arteriosus, Transp... OMIM:217095
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Atrial septal defect OMIM:617744
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... OMIM:619371
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent foramen ovale OMIM:610338
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
White Forelock With Malformations
Atrial septal defect OMIM:277740
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale OMIM:601450
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:249670
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Tetralogy of Fallot, Patent foramen ovale OMIM:239711
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... ORPHA:1354
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Mitral stenosis, Tricuspid valve prolapse, Patent foram... OMIM:212093
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Complete Atrioventricular Septal Defect
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... ORPHA:1329
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Hypoplastic Left Heart Syndrome
Mitral atresia, Hypoplastic left heart, Mitral stenosis, Atrial septal defect ORPHA:2248
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
46,Xx Sex Reversal 5
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect OMIM:618901
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... OMIM:618316
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis OMIM:619149
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve prolapse, Righ... ORPHA:555874
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Transketolase Deficiency
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:488618
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Atrial septal defect, Tetralogy of Fallot OMIM:614954
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis OMIM:616028
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:261243
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale ORPHA:500159
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:617063
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:329224
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Mass Syndrome
Mitral valve prolapse OMIM:604308
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... ORPHA:477817
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618950
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Death in childhood OMIM:613759
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Transaldolase Deficiency
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:606003
Cardiac Diverticulum
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Tricuspid atresia, Tricuspid sten... ORPHA:1686
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:609053
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... ORPHA:860
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:270450
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... OMIM:616749
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic valve prolapse, Perimembranous ventricul... ORPHA:99094
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... OMIM:619167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... ORPHA:1120
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618870
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal heart morphology, Ventricular septal defect, Patent foramen ovale ORPHA:369891
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... OMIM:609942
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Atrial septal defect, ... OMIM:612561
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent foramen ovale, Cardiomyopathy OMIM:616866
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Abnormal mitral valve morphology, Abnorma... ORPHA:2729
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:612582
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... ORPHA:26793
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect OMIM:613355
Distal Xq28 Microduplication Syndrome
Patent foramen ovale ORPHA:293939
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Atrioventri... ORPHA:392
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale OMIM:607143
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale OMIM:602613
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus OMIM:617021
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid valve, Double outlet left ve... OMIM:600001
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:600123
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus OMIM:228940
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:612946
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect OMIM:263630
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Atrial septal de... ORPHA:210122
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Megalencephaly
Atrial septal defect ORPHA:2477
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Lambert Syndrome
Ventricular septal defect ORPHA:1296
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Truncus arteriosus ORPHA:401935
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Primum atrial septal defect, Ventricular septal defect, Atrioventricular canal defe... OMIM:619534
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Fetal Trimethadione Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:1913
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Abnormal cardiac septum mo... ORPHA:209905
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Aortic valve stenosis, Mitral valve prolapse, Pulmonic stenosis ORPHA:228410
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Neonatal death, Tetralogy of Fallot OMIM:617925
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:613870
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Woods Syndrome
Ventricular septal defect OMIM:615236
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Mcdonough Syndrome
Ventricular septal defect, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis OMIM:248950
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Mitral stenosis, Atrial septal defect, Tetralog... ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale OMIM:610505
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Atrial septal defect, Ab... ORPHA:1880
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... ORPHA:99050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Hypoplasia of right ventricle, Hypoplastic tricuspid valve, Double out... ORPHA:2255
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Abnormal cardiac septum morphology OMIM:618454
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Pulmonic stenosis OMIM:614300
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Filippi Syndrome
Ventricular septal defect OMIM:272440
Frank-Ter Haar Syndrome
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... OMIM:249420
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Mental Retardation, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Ventricular septal defect, Hypoplastic left heart, Patent foramen ... OMIM:301043
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect OMIM:600987
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Perimembranous ve... ORPHA:1457
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Fibrochondrogenesis 1
Patent foramen ovale OMIM:228520
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries OMIM:314390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Loeys-Dietz Syndrome 5
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:615582
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect OMIM:608406
Khan-Khan-Katsanis Syndrome
Abnormal heart morphology, Patent foramen ovale OMIM:618460
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Lambotte Syndrome
Ventricular septal defect OMIM:245552
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Left ventricular hyper... OMIM:615355
Lymphatic Malformation 7
Atrial septal defect, Pericardial effusion OMIM:617300
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Patent foramen ovale, Hypoplastic right heart OMIM:616894
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Umbilical hernia OMIM:616145
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale OMIM:613177
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618142
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Dysplastic tricuspid va... OMIM:265380
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619268
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Large placenta, Umbilical hernia ORPHA:254534
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Mitral stenosis, Atrial septal defect OMIM:617660
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:179613
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale ORPHA:505248
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Tyshchenko Syndrome
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615102
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Mitral valve prolapse, Abnormal mit... ORPHA:500
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect OMIM:617360
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect OMIM:236680
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Patent du... ORPHA:251071
Alg12-Cdg
Patent foramen ovale, Biventricular hypertrophy, Muscular ventricular septal defect ORPHA:79324
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Abnormality of the pul... ORPHA:290
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium OMIM:619143
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect OMIM:300963
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrial ... OMIM:601927
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis OMIM:617506
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Transposition of the great arteries, Abnor... ORPHA:1926
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse OMIM:605822
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale ORPHA:457395
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect ORPHA:352490
Mental Retardation, Autosomal Dominant 21
Atrial septal defect OMIM:615502
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomyopathy, Left ventricu... ORPHA:576
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:603387
Central Core Disease
Mitral valve prolapse ORPHA:597
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect OMIM:617164
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Opitz Gbbb Syndrome
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:2745
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:208085
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent foramen ovale OMIM:269860
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Coarctatio... OMIM:605275
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:612938
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:75389
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Abnormal heart mor... ORPHA:363700
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Atrial septal defect, Hypopl... OMIM:618280
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... ORPHA:97214
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent foramen ovale, Pulmonic stenosis OMIM:617137
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Coa... ORPHA:363705
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale OMIM:300990
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect OMIM:301039
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, Tricuspid regurgitation OMIM:618929
Prader-Willi Syndrome Due To Translocation
Abnormal heart morphology, Patent foramen ovale ORPHA:177907
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect OMIM:602482
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral stenosis, P... OMIM:616564
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Atrial septal defect, Pulmonary valve atresia OMIM:301030
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... OMIM:612863
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Ebstein a... ORPHA:466791
Mental Retardation, Buenos Aires Type
Atrial septal defect OMIM:249630
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect ORPHA:2549
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale OMIM:618653
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Pulmonic stenosis OMIM:615508
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... OMIM:270100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale ORPHA:280633
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent foramen ovale ORPHA:17
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis OMIM:609008
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Cranioectodermal Dysplasia 2
Left ventricular hypertrophy, Atrial septal defect, Patent foramen ovale OMIM:613610
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Over... ORPHA:3304
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy, Patent ductus arteriosus ORPHA:452
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Patent foramen ovale, Mitral valve calcification OMIM:619127
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Spinal dysra... ORPHA:1908
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect OMIM:243150
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:2519
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:2143
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Transposition of the great... ORPHA:3097
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Atrial septal defect ORPHA:1842
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... OMIM:609029
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Prune Belly Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot ORPHA:2970
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Truncus Arteriosus
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Right ventricular hypertr... ORPHA:3384
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... OMIM:601186
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy OMIM:616651
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect OMIM:614857
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:90308
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:611553
Chromosome 18Q Deletion Syndrome
Ventricular septal defect, Ascending tubular aorta aneurysm, Umbilical hernia, Dysplastic aortic ... OMIM:601808
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal heart morphology, Ventricular septal defect, Patent foramen ovale ORPHA:444077
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Mitral valve prolapse ORPHA:324604
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mitral valve prolapse, Cardiomyopathy OMIM:258450
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Neu-Laxova Syndrome 1
Transposition of the great arteries, Ventricular septal defect, Patent foramen ovale OMIM:256520
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Atrial septal defect, Perimembranous ventricular septal defect, Muscul... ORPHA:363444
Degcags Syndrome
Ventricular septal defect, Pulmonic stenosis, Dysplastic pulmonary valve, Atrial septal defect, P... OMIM:619488
Thanatophoric Dysplasia
Atrial septal defect ORPHA:2655
Cooper-Jabs Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1488
Pentalogy Of Cantrell
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal pericardium morpho... ORPHA:1335
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Distal Monosomy 19P13.3
Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia ORPHA:96129
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Mitral valve prolapse OMIM:121050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale ORPHA:391487
Acrocardiofacial Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Coarctation of aorta, Mitral ste... ORPHA:2008
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis ORPHA:3071
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Myxomatous mitral valve degeneration OMIM:130090
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Hardikar Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Partial anomalous pulmonar... OMIM:301068
Bartsocas-Papas Syndrome 1
Patent foramen ovale OMIM:263650
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Pseudoaminopterin Syndrome
Patent foramen ovale ORPHA:221120
Pelger-Huet Anomaly
Ventricular septal defect, Umbilical hernia OMIM:169400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Thanatophoric Dysplasia Type 2
Atrial septal defect ORPHA:93274
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Situs inversus totalis, Aortic valve stenosis, Atrial septal defect OMIM:267010
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... ORPHA:369929
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Subvalvular aortic stenosis OMIM:613001
Alazami Syndrome
Atrial septal defect ORPHA:319671
Mosaic Trisomy 16
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Patent ductus arterio... ORPHA:1708
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus OMIM:153400
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:617159
Seckel Syndrome 9
Ventricular septal defect, Atrial septal defect OMIM:616777
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Atrioventricu... ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Kagami-Ogata Syndrome
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:608149
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Sotos Syndrome
Ventricular septal defect, Atrial septal defect OMIM:117550
Gaucher Disease, Type Iiic
Cardiomegaly, Mitral stenosis, Mitral valve calcification, Aortic valve calcification OMIM:231005
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, D... OMIM:600460
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia, Cardiogenic shock ORPHA:276432
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:610733
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1770
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Phace Association
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Aortic aneurysm, Arter... OMIM:606519
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Atrial septal defect, Abnormal cardiac septum morphology OMIM:610978
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614576
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot OMIM:612562
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Situs inversus totalis, A... ORPHA:289
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion OMIM:618775
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... OMIM:607872
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Bdv Syndrome
Atrial septal defect OMIM:619326
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect OMIM:609625
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect OMIM:614886
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect OMIM:617452
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Transposition of the grea... OMIM:201000
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Umbilical hernia, Right aortic arch with mirr... OMIM:192430
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Trisomy 13
Ventricular septal defect, Atrial septal defect ORPHA:3378
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Codas Syndrome
Ventricular septal defect ORPHA:1458
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Heart murmur OMIM:158170
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Tetrasomy 9P
Dextrocardia, Pericarditis, Abnormal mitral valve morphology, Abnormal cardiac septum morphology,... ORPHA:3310
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:457193
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral st