Hypoplastic left heart syndrome 1

Preferred Label : Hypoplastic left heart syndrome 1;

Symbol : HLHS1;

CISMeF acronym : HLHS; HLHS1;

Type : Other, mainly phenotypes with suspected mendelian basis;

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). - Genetic Heterogeneity of Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome-2 (HLHS2; 614435) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35.1. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with HLHS.;

Inheritance : Autosomal recessive vs. multifactorial;

Prefixed ID : 241550;

Details

Origin ID

241550;

UMLS CUI

C4551854;

Automatic exact mappings (from CISMeF team)
- GJA1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hypoplastic left heart syndrome [ORDO Disease]
- Hypoplastic left heart syndrome [ICD-11 Subcategory]
- hypoplastic left heart syndrome [MeSH Descriptor]
DO Cross reference
- hypoplastic left heart syndrome [DO Concept]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Hypoplastic left heart [HPO term]
- Multifactorial inheritance [HPO term]
- Oligogenic inheritance [HPO term]
ORDO concept(s)
- Hypoplastic left heart syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic Left Heart Syndrome [NCIt concept]
- Hypoplastic left heart [HPO term]
- Hypoplastic left heart syndrome [MedDRA Preferred Term]
- Hypoplastic left heart syndrome [ICD-10 Sub-category (who)]
- Hypoplastic left heart syndrome [ICD-9 code]
- Hypoplastic left heart syndrome [ORDO Disease]
- Hypoplastic left heart syndrome [ICD-10 Sub-category]
- Hypoplastic left heart syndrome [ACR pathology]
- Hypoplastic left heart syndrome (disorder) [SNOMED CT concept]
- Left Heart Hypoplasia [PASCAL descriptor]
- hypoplastic left heart syndrome [SNOMED Notion]
- hypoplastic left heart syndrome [MeSH Descriptor]
- hypoplastic left heart syndrome [MeSH concept]
- hypoplastic left heart syndrome [Radlex concept]
- hypoplastic left heart syndrome [DO Concept]
- hypoplastic left heart syndrome [Disease (Nov.)]

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