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Article

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

American journal of medical genetics. Part A - 1 Nov 2024

Kishnani Priya S, Seefried Lothar, Dahir Kathryn M, Martos-Moreno Gabriel Ángel, Linglart Agnès, Petryk Anna, Mowrey William R, Fang Shona, Ozono Keiichi, Högler Wolfgang, Rockman-Greenberg Cheryl

Abstract excerpt

Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue-nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL variants from the observational, prospective, multinational Global HPP Registry. Inclusion in the analysis required a diagnosis of HPP, low serum ALP activity, and ≥1 ALPL variant. Of 1176 patients enrolled as of September 2022, 814 met...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38884565
DOI: 10.1002/ajmg.a.63781

Genes

ALPL

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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