Other overlap syndromes

M13_OVERLAP

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.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 M35.1
  • Cause of death: ICD-10 M35.1

2 out of 7 registries used, show all original rules.

558

4. Check minimum number of events

None

558

5. Include endpoints

None

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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

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

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