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Article

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Steichen-Gersdorf Elisabeth, Lorenz-Depiereux Bettina, Strom Tim Matthias, Shaw Nicholas J

Abstract excerpt

Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be...

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Source

Identifiers

PMID: 25741938
DOI: 10.1515/jpem-2014-0531

Genes

ENPP1

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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Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.PMID 25741938Read ↗

Hearing loss is part of the clinical picture of ENPP1 loss of function mutation.Semantic proximity Read ↗

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Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).Semantic proximity Read ↗

Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.Semantic proximity Read ↗

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2Semantic proximity Read ↗

Clinical presentation and burden of ENPP1 deficiency in adults.Semantic proximity Read ↗

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlSemantic proximity Read ↗

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

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.Semantic proximity Read ↗

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.Semantic proximity Read ↗

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.Semantic proximity Read ↗

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.Semantic proximity Read ↗

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