Hypoplastic left heart syndrome 2

Preferred Label : Hypoplastic left heart syndrome 2;

Symbol : HLHS2;

CISMeF acronym : HLHS2;

Type : Phenotype, molecular basis known;

Description : Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0004);

Prefixed ID : #614435;

Details

Origin ID

614435;

UMLS CUI

C3280795;

Automatic exact mappings (from CISMeF team)
- NKX2-5 wt Allele [NCIt concept]
DO Cross reference
- hypoplastic left heart syndrome [DO Concept]
Genes related to phenotype
- Nk2 homeobox 5 [OMIM gene]
HPO term(s)
- Aortic valve atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypoplastic left heart [HPO term]
- Mitral atresia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Hypoplastic left heart syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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