Autosomal recessive hypophosphatemic rickets type 2

Autosomal recessive hypophosphatemic rickets type 2 is a hyperphosphaturia syndrome with skeletal malformations caused by mutations of the ENPP1 gene.

Systematic

FGF23-induced hypophosphatemic rickets
	Autosomal dominant hypophosphatemic rickets
	Autosomal recessive hypophosphatemic rickets type 1
	Autosomal recessive hypophosphatemic rickets type 2
		ENPP1
	X-linked dominant hypophosphatemic rickets

References:

1.	Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

2.	Levy-Litan V et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

3.	Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

4.	OMIM.ORG article Omim 613312

Update: June 23, 2025

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