Cowden syndrome 5
MONDO:0014047Mondo
Findings
No curated finding names Cowden syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.
Definition from the Mondo Disease Ontology (MONDO:0014047), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- PIK3CAHGNC:8975
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Cowden syndrome 5
- Also called
- Cowden disease caused by mutation in PIK3CACowden syndrome type 5PIK3CA Cowden disease