mixed connective tissue disease: 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.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
---|---|
Phenotype data |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
558 |
4. Check minimum number of eventsNone |
558 |
5. Include endpointsNone |
558 |
6. Filter based on genotype QC (FinnGen only) |
546 |
Control definitions (FinnGen only)
Control exclude
M13_SYSTCONNECT
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M35
Name in latin
Alia syndromata mixta
Similar endpoints
↥List of similar endpoints to Other overlap syndromes based on the number of shared cases.
Broader endpoints:
- Mixed connective tissue disease
- Other systemic involvement of connective tissue (FG)
- Other systemic involvement of connective tissue
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
Narrower endpoints:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | |||
Whole population | 3427 | 2668 | 727 |
Only index persons | 3153 | 2488 | 665 |
Unadjusted period prevalence (%) | |||
Whole population | 0.06 | 0.08 | 0.02 |
Only index persons | 0.08 | 0.09 | 0.03 |
Median age at first event (years) | |||
Whole population | 55.82 | 55.40 | 57.44 |
Only index persons | 55.07 | 54.63 | 56.69 |
-FinnGen-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | 546 | 427 | 119 |
Unadjusted period prevalence (%) | 0.16 | 0.19 | 0.07 |
Median age at first event (years) | 52.85 | 50.85 | 60.04 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: M13_OVERLAP – Other overlap syndromes
GWS hits: 1
Loading Relationships table