Aortic valve disease 1

Preferred Label : Aortic valve disease 1;

Symbol : AOVD1;

CISMeF acronym : AOVD1; BAV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aortic stenosis, calcific; Bicuspid aortic valve; Aortic valve, calcification of; Aortic valve, bicuspid; Aortic valve disease; BAV; AOVD;

Description : Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. - Genetic Heterogeneity of Aortic Valve Disease Aortic valve disease-2 (AOVD2; 614823) is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the notch receptor 1 gene (NOTCH1, 190198.0001);

Prefixed ID : #109730;

Details

Origin ID

109730;

UMLS CUI

C3887892;

Automatic exact mappings (from CISMeF team)
- Aortic Valve Disease, CTCAE [NCIt concept]
- Aortic valve calcification [PASCAL descriptor]
- Atrioventricular block (disorder) [SNOMED CT concept]
- Congenital insufficiency of aortic valve [ICD-10 Sub-category]
- Diseases of aortic valve [ICD-9 code]
- Dribbling from mouth (finding) [SNOMED CT concept]
- NOTCH1 wt Allele [NCIt concept]
- aortic valve, calcification of [MeSH concept]
- aortic valve, calcification of [MeSH Supplementary Concept]
- atrioventricular block [MeSH Descriptor]
- bovine adenovirus, nos [SNOMED Notion]
- drool [SNOMED Notion]
- stockings, compression [MeSH Descriptor]
Currated CISMeF NLP mapping
- Aortic Valve Disease 1 [MeSH concept]
- Aortic Valve Disease 1 [NCIt concept]
- Aortic Valve Disorder [NCIt concept]
- Aortic valve disease [PASCAL descriptor]
- Aortic valve disease [Bloc CIM-11]
- Bicuspid Aortic Valve [NCIt concept]
- Bicuspid aortic valve [PASCAL descriptor]
- Bicuspid aortic valve [ICD-11 Sub-sub category]
- Bicuspidization of aortic valve (procedure) [SNOMED CT concept]
- Diseases of aortic valve [MedDRA LLT]
- aortic valve disease [DO Concept]
- aortic valve disease 1 [DO Concept]
- bicuspidization of aortic valve [SNOMED Notion]
DO Cross reference
- aortic valve disease 1 [DO Concept]
False automatic mappings
- ABOS Regimen [NCIt concept]
- Aortic valve calcification [HPO term]
- Aortic valve calcification [MedDRA Preferred Term]
- Aortic valve calcification (disorder) [SNOMED CT concept]
- Aortic valve disease [MedDRA Preferred Term]
- Aortic valve disease NOS [MedDRA LLT]
- Bicuspid aortic valve [HPO term]
- Bicuspid aortic valve [MedDRA Preferred Term]
- Bicuspid aortic valve (disorder) [SNOMED CT concept]
- Visual acuity reduced [MedDRA Preferred Term]
- bicuspid aortic valve [SNOMED Notion]
Genes related to phenotype
- Notch receptor 1 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Double outlet right ventricle [HPO term]
- Mitral atresia [HPO term]
- Mitral stenosis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Bicuspid aortic valve [ORDO Disease]
- Familial bicuspid aortic valve [ORDO Disease]
See also inter- (CISMeF)
- Bicuspid aortic valve [ORDO Disease]
- aortic valve calcification [Disease (Nov.)]
- bicuspid aortic valve [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aortic Valve Disease 1 [NCIt concept]
Validated automatic mappings to NTBT
- Aortic Valve Disease [MeSH Descriptor]
- Aortic valve disorder (disorder) [SNOMED CT concept]
- Bicuspid Aortic Valve Disease [MeSH Descriptor]
- Familial bicuspid aortic valve [ORDO Disease]
- aorta valve disorder [Disease (Nov.)]

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