vitamin D-dependent rickets, type 2A

(redirected from hereditary vitamin D-resistant rickets)

vitamin D-dependent rickets, type 2A

A disorder (OMIM:277440) of vitamin D metabolism resulting in severe rickets, hypocalcaemia and secondary hyperparathyroidism. Most patients also have total alopecia.

Molecular pathology
Defects of VDR, which encodes the nuclear hormone receptor for vitamin D3, cause vitamin D-dependent rickets type 2A.
References in periodicals archive ?
Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment.
A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets. Mol Genet Metab 2001;73:138-148.
Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia.
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by abnormality of the vitamin D receptor (VDR).
Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease characterized by early-onset severe rickets, alopecia, hypocalcemia, and secondary hyperparathyroidism in the face of an elevated serum 1,25 dihydroxyvitamin [D.sub.3] [1,25(OH)2[D.sub.3]] level.
Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.

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