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Article

Hearing loss is part of the clinical picture of ENPP1 loss of function mutation.

Hormone research in paediatrics - 1 Jan 2014

Brachet C, Mansbach A L, Clerckx A, Deltenre P, Heinrichs C

Abstract excerpt

BACKGROUND: Ecto/nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) loss-of-function mutations have been described in patients with autosomal recessive hypophosphatemic rickets (HR), in patients with generalized arterial calcification of infancy (GACI) and in several patients with both conditions. Out of more than 50 cases of homozygous or compound heterozygous ENPP1 loss-of-function mutations published so...

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Source

Identifiers

PMID: 24216977
DOI: 10.1159/000354661

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.

Related research

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Hearing loss is part of the clinical picture of ENPP1 loss of function mutation.PMID 24216977Read ↗

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

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

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

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

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

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

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

Characterization of Hearing-Impairment in Generalized Arterial Calcification of Infancy (GACI)Semantic proximity Read ↗

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.Semantic proximity Read ↗

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

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Semantic proximity Read ↗

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

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