DISEASES

Disease-gene associations mined from literature

Human genes for hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome [DOID:0111582]

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 NT5E on chromosome 6q14.3.

Synonyms:  hereditary arterial and articular multiple calcification syndrome,  DOID:0111582,  hereditary arterial and articular multiple calcification disease,  hereditary arterial and articular multiple calcification disorder,  familial arterial and articular multiple calcification syndrome ...