Vitamin D-dependent rickets type 2A is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). Also an alopecia is a common finding. The disease is caused by loss-of-function mutations in the vitamin D receptor gene.
|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|
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OMIM.ORG articleOmim 277440