KEGG   DISEASE: Autosomal recessive hypophosphatemic ricketsHelp
Entry
H02139                      Disease                                

Name
Autosomal recessive hypophosphatemic rickets
  Supergrp
Hypophosphatemic rickets [DS:H00214]
Description
Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially in osteoblasts and osteocytes, and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H02139  Autosomal recessive 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
     H02139  Autosomal recessive hypophosphatemic rickets
BRITE hierarchy
Gene
(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
Other DBs
ICD-11: 5C63.22
ICD-10: E83.3
MeSH: C562792 C567647
OMIM: 241520 613312
Reference
  Authors
Alizadeh Naderi AS, Reilly RF
  Title
Hereditary disorders of renal phosphate wasting.
  Journal
Nat Rev Nephrol 6:657-65 (2010)
DOI:10.1038/nrneph.2010.121
Reference
  Authors
Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE
  Title
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
  Journal
Nat Genet 38:1310-5 (2006)
DOI:10.1038/ng1905
Reference
  Authors
Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
  Title
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
  Journal
Am J Hum Genet 86:273-8 (2010)
DOI:10.1016/j.ajhg.2010.01.010
LinkDB All DBs

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