KEGG   DISEASE: Hypophosphatasia
Entry
H00213                      Disease                                

Name
Hypophosphatasia
Description
Hypophosphatasia is an autosomal recessive disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H00213  Hypophosphatasia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00213  Hypophosphatasia
Related
pathway
hsa00790  Folate biosynthesis
hsa00730  Thiamine metabolism
Gene
ALPL [HSA:249] [KO:K01077]
Drug
Asfotase alfa [DR:D10595]
Other DBs
ICD-11: 5C64.3
ICD-10: E83.3
MeSH: D007014
OMIM: 146300 241500 241510
Reference
  Authors
Mornet E
  Title
Hypophosphatasia.
  Journal
Orphanet J Rare Dis 2:40 (2007)
DOI:10.1186/1750-1172-2-40
Reference
PMID:10737975 (description, gene, marker)
  Authors
Mornet E
  Title
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
  Journal
Reference
PMID:18328985 (description, gene, marker)
  Authors
Mornet E
  Title
Hypophosphatasia.
  Journal
Best Pract Res Clin Rheumatol 22:113-27 (2008)
DOI:10.1016/j.berh.2007.11.003
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