mixed connective tissue disease
Findings
No curated finding names mixed connective tissue disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0005854), read 2026-09-29. CC BY 4.0.
Features
68 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthritisHPOHP:0001369
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Chest painHPOHP:0100749
- Very frequent (80% to 99% of cases)
- DyspneaHPOHP:0002094
- Very frequent (80% to 99% of cases)
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Gastritis
Show the remaining 56
- Anti-cyclic citrullinated peptide antibody positivityHPOHP:0034092
- Frequent (30% to 79% of cases)
- Anti-dsDNA antibody positivityHPOHP:0020151
- Frequent (30% to 79% of cases)
- Anti-ribosome Po antibody positivityHPOHP:0034076
- Frequent (30% to 79% of cases)
- Anti-Ro52/TRIM21 antibody positivityHPOHP:0034093
- Frequent (30% to 79% of cases)
- Anti-U1 ribonucleoprotein antibody positivityHPOHP:0033028
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
Where it sits
Other names
2 names
Resolves to: mixed connective tissue disease
- Also called
- MCTDsharp syndrome