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.

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

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

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

5.	None (1977) Sensorineural deafness associated with recessive hypophosphataemic rickets.

6.	OMIM.ORG article Omim 241520

7.	Orphanet article Orphanet ID 437

Update: June 23, 2025

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