Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

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

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3.

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

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Update: Sept. 26, 2018