/vitamin D-dependent rickets, type 2B

vitamin D-dependent rickets, type 2B

Rare Disease

MONDO:0010931

Also Known As

hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopeciavitamin D dependent rickets 2bvitamin D receptor signaling defect ricketsvitamin D receptor signalling defect ricketsvitamin D resistant ricketsvitamin D-dependent rickets type II without alopeciaVDDR2Bvitamin D-dependent rickets, type 2B, with normal vitamin D receptor

Definition

Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.