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Article

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Orphanet journal of rare diseases - 25 May 2017

Morren Marie-Anne, Jaeken Jaak, Visser Gepke, Salles Isabelle, Van Geet Chris, Simeoni Ilenia, Turro Ernest, Freson Kathleen

Abstract excerpt

BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal...

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Share to Adolescent
Share to GPI gene
Share to Glycosylphosphatidylinositols

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

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Source

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Identifiers

PMID: 28545593
DOI: 10.1186/s13023-017-0654-9
PMCID: PMC5445308

Genes

PIGO
GPI

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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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

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