rickets, hypophosphatemic, autosomal recessive type 2(redirected from autosomal recessive hypophosphatemic rickets type 2)
rickets, hypophosphatemic, autosomal recessive type 2An autosomal recessive form (OMIM:613312) of hypophosphatemic rickets, a proximal renal tubule disorder that causes phosphate loss and hypophosphataemia.
Bone pain, fractures, growth defects, skeletal deformities (including rickets and vitamin D unresponsive osteomalacia).
Caused by loss of function mutations in ENPP1, which encodes a transmembrane glycoprotein that regulates soft tissue calcium and bone and joint cartilage mineralisation by generating pyrophosphate (PPi), a physiological inhibitor of hydroxyapatite crystal formation and a suppressor of chondrogenesis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.