Autosomal recessive hypophosphatemic rickets

Definition:

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.

References:

[1]. Amir S Alizadeh Naderi, et al. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. [Content Brief]

[2]. Jian Q Feng, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006 Nov;38(11):1310-5. [Content Brief]

[3]. Varda Levy-Litan, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010 Feb 12;86(2):273-8. [Content Brief]

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