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 |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
605 |
4. Check minimum number of eventsNone |
605 |
5. Include endpointsNone |
605 |
6. Filter based on genotype QC (FinnGen only) |
587 |
Control definitions (FinnGen only)
Extra metadata
Similar endpoints
↥List of similar endpoints to
Other overlap syndromes
based on the number of shared cases.
Similar with more cases:
- Mixed connective tissue disease
- Other systemic involvement of connective tissue (FG)
- Other systemic involvement of connective tissue
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
Similar with less cases:
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 | 587 | 457 | 130 |
| Unadjusted period prevalence (%) | 0.15 | 0.18 | 0.07 |
| Median age at first event (years) | 53.30 | 51.00 | 61.40 |
-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
↥Association
Association between endpoint M13_OVERLAP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_OVERLAP | 1.678 [1.46, 1.93] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.224 |
During the follow-up period (1.1.1998 — 31.12.2019), 518 out of 2397 females with M13_OVERLAP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_OVERLAP | 1.774 [1.42, 2.21] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 209 out of 661 males with M13_OVERLAP died.
Mortality risk
Mortality risk for people of age
years, who have M13_OVERLAP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.153% | 0.263% |
| 5 | 1.046% | 1.899% |
| 10 | 2.575% | 4.915% |
| 15 | 4.769% | 8.96% |
| 20 | 8.273% | 15.286% |
Relationships between endpoints
↥Index endpoint: M13_OVERLAP – Other overlap syndromes
GWS hits: -
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