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Article

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Molecular genetics & genomic medicine - 1 Mar 2026

Salmaninejad Arash, Seyedtaghia Mohammad Reza, Bereshneh Ali Hosseini, Azizi Nasrin, Bayat Reza, Esnaashari Somaye, Aminzadeh Vahid, Koohmanaee Shahin, Savad Shahram, Mojarrad Majid, Dalili Setila

Abstract excerpt

BACKGROUND: A rare autosomal recessive disorder known as hyperphosphatasia with impaired intellectual development syndrome (HPMRS), also referred to as Mabry syndrome, is caused by a deficiency in glycosylphosphatidylinositol (GPI). Elevated blood alkaline phosphatase (ALP) levels, cognitive impairment, and epileptic seizures are among its key features. These pathways are involved in the synthesis of GPI and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41866703
DOI: 10.1002/mgg3.70206
PMCID: PMC13098028

Genes

GPI
PGAP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.PMID 41866703Read ↗

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