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hereditary arterial and articular multiple calcification syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands.
Mondo Term and Equivalent IDs
MONDO:0008895:  hereditary arterial and articular multiple calcification syndrome
DOID:0111582: 
GARD:0010762: 
MESH:C565891: 
Orphanet:289601: 
SCTID:718602007: 
UMLS:C1859372: 
UMLS:C4305347: