connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Other and unspecified localized connective tissue disorders
DOID EFO Endpoint Browser PheWeb
L12_LOCALCONNECTISSUENAS
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. |
104 |
4. Check minimum number of eventsNone |
104 |
5. Include endpointsNone |
104 |
6. Filter based on genotype QC (FinnGen only) |
99 |
Control definitions (FinnGen only)
Control exclude
L12_OTHERSKINSUBCUTIS
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified localized connective tissue disorders
based on the number of shared cases.
Similar with more cases:
- Other localized connective tissue disorders
- Other disorders of skin and subcutaneous tissue
- Diseases of the skin and subcutaneous tissue
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 731 | 517 | 209 |
| Only index persons | 668 | 476 | 192 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 57.42 | 58.15 | 55.57 |
| Only index persons | 56.17 | 56.81 | 54.57 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 99 | 81 | 18 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | 55.63 | 56.12 | 53.45 |
-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
No data
Mortality – FinRegistry
↥Association
Association between endpoint L12_LOCALCONNECTISSUENAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALCONNECTISSUENAS | 2.205 [1.66, 2.92] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.115 |
During the follow-up period (1.1.1998 — 31.12.2019), 126 out of 480 females with L12_LOCALCONNECTISSUENAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALCONNECTISSUENAS | 3.039 [1.96, 4.7] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.013 |
During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 193 males with L12_LOCALCONNECTISSUENAS died.
Mortality risk
Mortality risk for people of age
years, who have L12_LOCALCONNECTISSUENAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.166% | 0.67% |
| 5 | 1.212% | 3.887% |
| 10 | 3.173% | 9.209% |
| 15 | 5.842% | 17.341% |
| 20 | 9.921% | 27.853% |
Relationships between endpoints
↥Index endpoint: L12_LOCALCONNECTISSUENAS – Other and unspecified localized connective tissue disorders
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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