vitamin D-dependent rickets, type 2A
(redirected from PDDR IIA)vitamin D-dependent rickets, type 2A
A disorder (OMIM:277440) of vitamin D metabolism resulting in severe rickets, hypocalcaemia and secondary hyperparathyroidism. Most patients also have total alopecia.Molecular pathology
Defects of VDR, which encodes the nuclear hormone receptor for vitamin D3, cause vitamin D-dependent rickets type 2A.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.