Atrioventricular septal defect 5

Preferred Label : Atrioventricular septal defect 5;

Symbol : AVSD5;

CISMeF acronym : AVSD5;

Type : Phenotype, molecular basis known;

Description : The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-6 gene (GATA6, 601656.0004);

Prefixed ID : #614474;

Details

Origin ID

614474;

UMLS CUI

C3280939;

DO Cross reference
- atrioventricular septal defect [DO Concept]
Genes related to phenotype
- Gata-binding protein 6 [OMIM gene]
HPO term(s)
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Muscular ventricular septal defect [HPO term]
ORDO concept(s)
- Atrioventricular septal defect [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]

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