Autosomal recessive hypophosphatemic rickets type 2 is a hyperphosphaturia syndrome with skeletal malformations caused by mutations of the ENPP1 gene.
|FGF23-induced hypophosphatemic rickets|
|Autosomal dominant hypophosphatemic rickets|
|Autosomal recessive hypophosphatemic rickets type 1|
|Autosomal recessive hypophosphatemic rickets type 2|
|X-linked dominant hypophosphatemic rickets|
Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Levy-Litan V et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
OMIM.ORG articleOmim 613312