platelet-activating factor acetylhydrolase deficiency
MONDO:0013663Mondo
Findings
No curated finding names platelet-activating factor acetylhydrolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased level of platelet-activating factorHPOHP:0040178
- Platelet-activating factor acetylhydrolase deficiencyHPOHP:0040175
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLA2G7HGNC:9040
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: platelet-activating factor acetylhydrolase deficiency
- Also called
- platelet-activating factor acetylhydrolase deficiency (disease)