Platelet-activating factor acetylhydrolase deficiency

Preferred Label : Platelet-activating factor acetylhydrolase deficiency;

Symbol : PAFAD;

CISMeF acronym : PAFAD;

Type : Phenotype, molecular basis known;

Description : Deficiency of plasma platelet-activating factor acetylhydrolase results in increased levels of PAF, a chemotactic lipid that activates inflammatory cells, bronchoconstriction, and airway hyperresponsiveness, and can moderate the release of inflammatory agonists. Asthmatic individuals with PAF acetylhydrolase deficiency may have exacerbated symptoms (summary by Stafforini et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group VII gene (PLA2G7, 601690.0001);

Laboratory abnormalities : Platelet-activating factor acetylhydrolase deficiency;

Prefixed ID : #614278;

Details

Origin ID

614278;

UMLS CUI

C3280315;

Automatic exact mappings (from CISMeF team)
- PLA2G7 wt Allele [NCIt concept]
- Platelet-activating factor acetylhydrolase deficiency [HPO term]
Currated CISMeF NLP mapping
- Platelet-Activating factor acetylhydrolase deficiency [MeSH concept]
- Platelet-Activating factor acetylhydrolase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Phospholipase a2, group VII [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Increased level of platelet-activating factor [HPO term]
- Platelet-activating factor acetylhydrolase deficiency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platelet-Activating factor acetylhydrolase deficiency [MeSH Supplementary Concept]
- Platelet-Activating factor acetylhydrolase deficiency [MeSH concept]
- Platelet-activating factor acetylhydrolase deficiency [HPO term]

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