vitamin D-dependent rickets, type 2B
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.
MONDO:0019642
vitamin D-dependent rickets, type 2
is_a
MONDO:0800096
abnormal mineralization disorder
is_a
VDDR2B
related
hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia
exact
vitamin D dependent rickets 2b
exact
vitamin D receptor signaling defect rickets
exact
vitamin D receptor signalling defect rickets
exact
vitamin D resistant rickets
exact
vitamin D-dependent rickets type II without alopecia
exact
vitamin D-dependent rickets, type 2B, with normal vitamin D receptor
related