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Article

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

American journal of human genetics - 12 Feb 2010

Lorenz-Depiereux Bettina, Schnabel Dirk, Tiosano Dov, Häusler Gabriele, Strom Tim M

Abstract excerpt

The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide...

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Source

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Identifiers

PMID: 20137773
DOI: 10.1016/j.ajhg.2010.01.006
PMCID: PMC2820166

Genes

ENPP1
FGF23
DMP1
PHEX

Provenance

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Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.PMID 20137773Read ↗

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

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

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

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

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.Semantic proximity Read ↗

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

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

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

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.Semantic proximity Read ↗

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Semantic proximity Read ↗

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