/vitamin D-dependent rickets, type 2A

vitamin D-dependent rickets, type 2A

Rare Disease

MONDO:0010186

Also Known As

VDR vitamin D-dependent rickets, type 2hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopeciarickets, vitamin D-resistant, type IIAvitamin D dependent rickets 2avitamin D receptor deficiency ricketsvitamin D-dependent rickets, type 2 caused by mutation in VDRvitamin D-dependent rickets, type 2Avitamin d-dependent rickets type II with alopeciaPddr 2APseudovitamin D-deficiency, type 2AVDDR2Ageneralised resistance to 1,25-dihydroxyvitamin Dgeneralized resistance to 1,25-dihydroxyvitamin Dhypocalcemic vitamin D-resistant ricketsrickets, hereditary vitamin D-resistantrickets-alopecia syndromevitamin D-dependent rickets, type 2A, with or without alopeciavitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol

Definition

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.