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A reference for what the literature reports. Not medical advice.

Disease

PIK3CA-related overgrowth spectrum

MONDO:1040002Mondo

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Findings

No curated finding names PIK3CA-related overgrowth spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic

Definition from the Mondo Disease Ontology (MONDO:1040002), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: overgrowth syndrome
Narrower terms (5): CLOVES syndrome
Cowden syndrome 5
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
segmental progressive overgrowth syndrome with fibroadipose hyperplasia