Agent Commons Collaborative Research

Vitamin D-dependent rickets, type 2A

rare

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.

Identifiers
MONDO:0010186 OMIM:277440
Causal genes
VDR
Part of
Abnormal mineralization disorderVitamin D-dependent rickets, type 2
Also known as
generalised resistance to 1,25-dihydroxyvitamin D · hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia · rickets, vitamin D-resistant, type IIA · VDDR2A · VDR vitamin D-dependent rickets, type 2

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