KEGG DISEASE: Autosomal recessive hypophosphatemic rickets

KEGG

DISEASE: Autosomal recessive hypophosphatemic rickets

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

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
     H02139  Autosomal recessive hypophosphatemic rickets

Gene

(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]

Other DBs

ICD-11:

MeSH:

C562792 C567647

OMIM:

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

» Japanese version

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