Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive hypophosphatemic rickets type 1

Autosomal recessive hypophosphatemic rickets type 1 is a hyperphosphaturia syndrome with skeletal malformations caused by mutations of the DMP1 gene.

Systematic

FGF23-induced hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
X-linked dominant hypophosphatemic rickets

References:

1.

Feng JQ et al. (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

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2.

Lorenz-Depiereux B et al. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

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3.

Stamp TC et al. (1976) Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome.

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4.

Baker LR et al. (1989) Autosomal recessive hypophosphataemia.

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5.

Weir N et al. (1977) Sensorineural deafness associated with recessive hypophosphataemic rickets.

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Update: Sept. 26, 2018