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mixed connective tissue disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.
Disease Ontology Description A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Mondo Term and Equivalent IDs
MONDO:0005854:  mixed connective tissue disease
EFO:0007374: 
GARD:0007051: 
MESH:D008947: 
NCIT:C84892: 
Orphanet:809: 
SCTID:398049005: 
UMLS:C0026272: