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Other and unspecified bullous disorders

DOID EFO Endpoint Browser PheWeb

L12_OTHERBULL

vesiculobullous skin disease: Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — L13
  • Hospital discharge: ICD-9 — 694[8-9]
  • Hospital discharge: ICD-8 — 69409
  • Hospital discharge: excluded ICD-10 — L13.0, L13.1
  • Cause of death: ICD-10 — L13
  • Cause of death: ICD-9 — 694[8-9]
  • Cause of death: ICD-8 — 69409
  • Cause of death: excluded ICD-10 — L13.0, L13.1

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

302

4. Check minimum number of events

None

302

5. Include endpoints

None

302

6. Filter based on genotype QC (FinnGen only)

294

Control definitions (FinnGen only)

Control exclude L12_BULLOUS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF6
Parent code in ICD-10 L10-L14
Name in latin Aliae morbositates bullosae

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2861 1586 1258
Only index persons 2371 1363 1008
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.04
Only index persons 0.05 0.05 0.04
Median age at first event (years)
Whole population 55.73 56.47 54.87
Only index persons 56.95 56.76 57.21

-FinnGen-

Key figures

All Female Male
Number of individuals 294 177 117
Unadjusted period prevalence (%) 0.07 0.07 0.06
Median age at first event (years) 59.74 56.76 64.25

-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

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Association

Association between endpoint L12_OTHERBULL and mortality.

Females

Parameter HR [95% CI] p-value
L12_OTHERBULL 1.902 [1.48, 2.45] < 0.001
Birth year 0.992 [0.98, 1.0] 0.074

During the follow-up period (1.1.1998 — 31.12.2019), 276 out of 1248 females with L12_OTHERBULL died.

Males

Parameter HR [95% CI] p-value
L12_OTHERBULL 2.2 [1.6, 3.02] < 0.001
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 245 out of 961 males with L12_OTHERBULL died.

Mortality risk

Mortality risk for people of age

years, who have L12_OTHERBULL.

N-year risk Females Males
1 0.175% 0.288%
5 1.006% 2.259%
10 2.608% 6.262%
15 4.971% 11.153%
20 8.711% 18.21%

Relationships between endpoints

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Index endpoint: L12_OTHERBULL – Other and unspecified bullous 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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