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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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.
ARHR type 2 (ARHR2, MIM 613312) is caused by inactivating homozygous mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1, MIM 173335) (81).
The firm will use the proceeds from this financing to advance its lead enzyme replacement therapy for the treatment of Generalised Arterial Calcification of Infancy (GACI) and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) into the clinic.
The company will use the proceeds from this financing to advance its lead enzyme replacement therapy for the treatment of Generalized Arterial Calcification of Infancy and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) into the clinic.