The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

doi:10.1186/s13023-023-02882-4

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Article

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

Orphanet journal of rare diseases - 27 Sept 2023

Ariceta Gema, Beck-Nielsen Signe Sparre, Boot Annemieke M, Brandi Maria Luisa, Briot Karine, de Lucas Collantes Carmen, Emma Francesco, Giannini Sandro, Haffner Dieter, Keen Richard, Levtchenko Elena, Mäkitie Outi, Mughal M Zulf, Nilsson Ola, Schnabel Dirk, Tripto-Shkolnik Liana, Liu Jonathan, Williams Angela, Wood Sue, Zillikens M Carola

Abstract excerpt

BACKGROUND: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestations, it is important to understand the natural history...

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Identifiers

PMID: 37752558
DOI: 10.1186/s13023-023-02882-4
PMCID: PMC10523658

Genes

FGF23
PHEX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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