Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations | Zendy

Shoji Ichikawa | Zendy; Vincent Guigonis | Zendy; Erik A. Imel | Zendy; Mélanie Courouble | Zendy; Sophie Heissat | Zendy; John Henley | Zendy; Andrea H. Sorenson | Zendy; Barbara Petit | Zendy; Anne Lienhardt | Zendy; Michael J. Econs | Zendy

Open Access

Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

Author(s) -

Shoji Ichikawa,

Vincent Guigonis,

Erik A. Imel,

Mélanie Courouble,

Sophie Heissat,

John Henley,

Andrea H. Sorenson,

Barbara Petit,

Anne Lienhardt,

Michael J. Econs

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1825

Subject(s) - hyperphosphatemia , fibroblast growth factor 23 , hyperostosis , medicine , ectopic calcification , endocrinology , klotho , tumoral calcinosis , calcification , compound heterozygosity , hypophosphatemia , metabolic disorder , mutation , biology , genetics , anatomy , calcinosis , gene , parathyroid hormone , kidney , kidney disease , calcium

Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes.

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