mucous membrane pemphigoid: Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.
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. |
64 |
4. Check minimum number of eventsNone |
64 |
5. Include endpointsNone |
64 |
6. Filter based on genotype QC (FinnGen only) |
64 |
Control definitions (FinnGen only)
Control exclude
L12_BULLOUS
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
L12
Name in latin
Pemphigoides cicatricalis
Similar endpoints
↥List of similar endpoints to
Cicatricial pemphigoid
based on the number of shared cases.
Similar with more cases:
- Pemphigoid
- Bullous disorders
- Autoimmune diseases
- Used for control exclusion in common control thyroid runs
- Diseases of the skin and subcutaneous tissue
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 410 | 265 | 143 |
| Only index persons | 375 | 247 | 128 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.00 |
| Only index persons | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 68.93 | 68.40 | 69.73 |
| Only index persons | 67.68 | 66.93 | 69.13 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 64 | 46 | 18 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 64.18 | 61.81 | 70.22 |
-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
No data
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint L12_PEMPHIGOID_CICA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGOID_CICA | 1.164 [0.85, 1.6] | 0.353 |
| Birth year | 0.997 [0.99, 1.01] | 0.51 |
During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 250 females with L12_PEMPHIGOID_CICA died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have L12_PEMPHIGOID_CICA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.123% | No data |
| 5 | 0.767% | No data |
| 10 | 1.93% | No data |
| 15 | 3.849% | No data |
| 20 | 6.67% | No data |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIGOID_CICA – Cicatricial pemphigoid
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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