rickets, hypophosphatemic, autosomal recessive type 2

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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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