X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia, and by abnormal 1,25-dihydroxy vitamin D. Manifestations of XLH include rickets in children, short stature, and osteomalacia. Mutations in the PHEX gene have been identified as the cause of XLH. PHEX encodes a metalloprotease that is found in the cell-surface membrane of osteoblasts, osteocytes, and odontoblasts.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C63 Disorders of vitamin or non-protein cofactor absorption or transport
H02143 X-linked dominant hypophosphatemic rickets
Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K
Title
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
