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Article

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl

Journal of clinical research in pediatric endocrinology - 22 May 2026

Lin Han-Yi, Lee Ni-Chung, Melody Tsai Meng-Ju, Wang Ting-Ming, Tung Yi-Ching

Abstract excerpt

Autosomal recessive hypophosphatemic rickets (ARHR) type 2 (ARHR2) is a rare form of hypophosphatemic rickets (HR) caused by a variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Our patient presented with a history of unsteady gait and progressively bowing legs that had commenced at the age of one year. Laboratory tests revealed elevated fibroblast growth factor 23 level,...

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Identifiers

PMID: 39012089
DOI: 10.4274/jcrpe.galenos.2024.2024-3-8
PMCID: PMC13197086

Genes

ENPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlPMID 39012089Read ↗

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 ↗

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 ↗

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

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.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 ↗

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the LiteratureSemantic proximity Read ↗

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

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

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset OsteoporosisSemantic proximity Read ↗

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