Vitamin D-dependent rickets, type 2A

MONDO:0010186

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.

Also known as: VDR vitamin D-dependent rickets, type 2, hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia, rickets, vitamin D-resistant, type IIA, vitamin D dependent rickets 2a, vitamin D receptor deficiency rickets, vitamin D-dependent rickets, type 2 caused by mutation in VDR, vitamin D-dependent rickets, type 2A, vitamin d-dependent rickets type II with alopecia

71 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by