pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.
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. |
196 |
4. Check minimum number of eventsNone |
196 |
5. Include endpoints |
217 |
6. Filter based on genotype QC (FinnGen only) |
208 |
Control definitions (FinnGen only)
Control exclude
L12_BULLOUS
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
L10-L14
Name in latin
Pemphigus
Similar endpoints
↥List of similar endpoints to
Pemphigus
based on the number of shared cases.
Similar with more cases:
- Bullous disorders
- Diseases of the skin and subcutaneous tissue
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2071 | 1164 | 893 |
| Only index persons | 1659 | 955 | 704 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.02 |
| Only index persons | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 60.97 | 62.71 | 58.53 |
| Only index persons | 58.01 | 59.23 | 56.35 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 208 | 111 | 97 |
| Unadjusted period prevalence (%) | 0.05 | 0.04 | 0.05 |
| Median age at first event (years) | 56.09 | 50.67 | 62.30 |
-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_PEMPHIGUS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS | 1.626 [1.33, 1.99] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.595 |
During the follow-up period (1.1.1998 — 31.12.2019), 277 out of 914 females with L12_PEMPHIGUS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS | 1.956 [1.45, 2.64] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 244 out of 706 males with L12_PEMPHIGUS died.
Mortality risk
Mortality risk for people of age
years, who have L12_PEMPHIGUS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.18% | 0.394% |
| 5 | 1.082% | 2.301% |
| 10 | 2.535% | 5.646% |
| 15 | 4.777% | 10.27% |
| 20 | 8.552% | 17.108% |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIGUS – Pemphigus
GWS hits: 1
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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