rickets, hypophosphatemic, autosomal recessive type 2

(redirected from autosomal recessive hypophosphatemic rickets 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.
References in periodicals archive ?
INZ-701, the company's lead therapeutic candidate, is in pre-clinical development for the treatment of patients with ENPP1 Deficiency, a serious and life-threatening calcification disorder that manifests as generalized arterial calcification of infancy in infants and as autosomal recessive hypophosphatemic rickets type 2 (ARHR2) post-infancy.
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