KEGG   DISEASE: X-linked dominant hypophosphatemic rickets
Entry
H02143                      Disease                                

Name
X-linked dominant hypophosphatemic rickets
  Supergrp
Hypophosphatemic rickets [DS:H00214]
Description
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H02143  X-linked dominant hypophosphatemic rickets
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
Gene
PHEX [HSA:5251] [KO:K08636]
Drug
Burosumab [DR:D10913]
Other DBs
ICD-11: 5C63.22
ICD-10: E83.3
MeSH: D053098
OMIM: 307800
Reference
PMID:9106524
  Authors
Holm IA, Huang X, Kunkel LM
  Title
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
  Journal
Am J Hum Genet 60:790-7 (1997)
Reference
  Authors
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.
  Journal
Pediatr Res 48:536-40 (2000)
DOI:10.1203/00006450-200010000-00019
Reference
  Title
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
  Journal
Nat Genet 26:345-8 (2000)
DOI:10.1038/81664
LinkDB

» Japanese version

DBGET integrated database retrieval system