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Article

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

American journal of human genetics - 12 Feb 2010

Levy-Litan Varda, Hershkovitz Eli, Avizov Luba, Leventhal Neta, Bercovich Dani, Chalifa-Caspi Vered, Manor Esther, Buriakovsky Sophia, Hadad Yair, Goding James, Parvari Ruti

Abstract excerpt

Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessive hypophosphatemic...

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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: 20137772
DOI: 10.1016/j.ajhg.2010.01.010
PMCID: PMC2820183

Genes

ENPP1
DMP1
FGF23
PHEX

Provenance

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Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.Semantic proximity Read ↗

[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].Semantic proximity Read ↗

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