rickets, hypophosphatemic, autosomal recessive type 2

An autosomal recessive form (OMIM:613312) of hypophosphatemic rickets, a proximal renal tubule disorder that causes phosphate loss and hypophosphataemia.
Clinical findings
Bone pain, fractures, growth defects, skeletal deformities (including rickets and vitamin D unresponsive osteomalacia).
Molecular pathology
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.

单词	rickets, hypophosphatemic, autosomal recessive type 2
释义	rickets, hypophosphatemic, autosomal recessive type 2 rickets, hypophosphatemic, autosomal recessive type 2 An autosomal recessive form (OMIM:613312) of hypophosphatemic rickets, a proximal renal tubule disorder that causes phosphate loss and hypophosphataemia. Clinical findings Bone pain, fractures, growth defects, skeletal deformities (including rickets and vitamin D unresponsive osteomalacia). Molecular pathology 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.
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