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Article

The genotypic and phenotypic spectrum of PIGA deficiency.

Orphanet journal of rare diseases - 27 Feb 2015

Tarailo-Graovac Maja, Sinclair Graham, Stockler-Ipsiroglu Sylvia, Van Allen Margot, Rozmus Jacob, Shyr Casper, Biancheri Roberta, Oh Tracey, Sayson Bryan, Lafek Mirafe, Ross Colin J, Robinson Wendy P, Wasserman Wyeth W, Rossi Andrea, van Karnebeek Clara D M

Abstract excerpt

BACKGROUND: Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Until recently, only somatic PIGA mutations had been reported in patients with paroxysmal nocturnal hemoglobinuria...

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Source

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Identifiers

PMID: 25885527
DOI: 10.1186/s13023-015-0243-8
PMCID: PMC4348372

Genes

PIGA
GPI

Variants

Provenance

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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