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Article

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Orphanet journal of rare diseases - 8 Jul 2021

Canaud Guillaume, Hammill Adrienne M, Adams Denise, Vikkula Miikka, Keppler-Noreuil Kim M

Abstract excerpt

BACKGROUND: PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subunit alpha. These mutations result in activation of the PI3K/AKT/mTOR signaling pathway. The goals of this review are to provide education on the underlying mechanism of disease for this group...

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Identifiers

PMID: 34238334
DOI: 10.1186/s13023-021-01929-8
PMCID: PMC8268514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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