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.

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Broader categories

Disease (618) Metabolic disease (215) Nutritional deficiency disease (206) Musculoskeletal system disorder (196) Hereditary disease (172) Nutritional disorder (116) Endocrine system disorder (61) Bone disorder (47) Inborn errors of metabolism (42) Human disease (14)

Trials to join now! 35 Not yet recruiting 10 Not yet finished but already full! 9 Completed 16 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC

Vitamin D-dependent rickets, type 2A

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease