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Article

Revisiting the Genetics of Hypophosphatasia.

Journal of inherited metabolic disease - 1 Nov 2025

Kishnani Priya S, Rehder Catherine, Ozono Keiichi, Pérez-López Jordi, Del Angel Guillermo, Mowrey William R, Balasubramanian Meena, Högler Wolfgang, Rush Eric T

Abstract excerpt

Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Genetic testing for ALPL variant(s) to confirm the diagnosis in patients with suspected HPP is a standard practice based on availability. This review attempts to improve the current understanding of the genetics of HPP as it addresses five key related...

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Identifiers

PMID: 41047464
DOI: 10.1002/jimd.70083
PMCID: PMC12497681

Genes

ALPL

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