hereditary arterial and articular multiple calcification syndrome

info · Syndrome

A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3.

Signs and symptoms

Intermittent claudication
Femoral arterial calcification
Iliac arterial calcification
Tibial arterial calcification
Intervertebral disk calcification
Periarticular calcification
Ectopic ossification
Coronary artery calcification

Also known as: CALJA; arterial calcification and distal joint calcification; arterial calcification due to CD73 deficiency; arterial calcification due to deficiency of CD73; calcification of joints and arteries