Vitamin D-dependent rickets type 2B is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). The disease is not caused by loss-of-function mutations in the vitamin D receptor gene. Hypothetical mutations interfering vitamin D receptor DNA binding are accused. The RXRA gene may be a likely candidate.
|Hypophosphatemic bone and kindney disease|
|Vitamin D hydroxylation-deficient rickets type 1A|
|Vitamin D hydroxylation-deficient rickets type 1B|
|Vitamin D-dependent rickets, type 2A|
|Vitamin D-dependent rickets, type 2B|