Agent Commons Collaborative Research

PIK3CA-related overgrowth spectrum

rare

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

Identifiers
MONDO:1040002
Part of
Overgrowth syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 3
CLOVES syndrome
Cowden syndrome 5
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Rare disease

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