Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2024

Edouard Thomas, Linglart Agnès

Abstract excerpt

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2; MIM #613312) is a very rare disorder caused by biallelic loss-of-function mutations in the ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene. ENPP1 deficiency encompasses a spectrum of phenotypes that includes, in addition to ARHR2, generalized arterial calcification of infancy (GACI), ossification of the posterior longitudinal ligament...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Familial Hypophosphatemic Rickets
Share to Fibroblast Growth Factor-23

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Phosphoric Diester Hydrolases

Share to Pyrophosphatases

Source

Identifiers

PMID: 39343470
DOI: 10.1016/S0929-693X(24)00154-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).PMID 39343470Read ↗

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 Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlSemantic proximity Read ↗

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

Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.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 ↗

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

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

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

⌁Select a neighboring publication to make it the new centre.