hereditary arterial and articular multiple calcification syndrome
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
MONDO:0003847
hereditary disease
is_a
MONDO:0005385
vascular disorder
is_a
ACDC
related
CALJA
exact
arterial calcification and distal joint calcification
related
arterial calcification due to CD73 deficiency
related
calcification of joints and arteries
exact
SPAC17G6.03 SPBPB2B2.06c SPAC1039.02