Epidermolysis bullosa

Q17_EPIDERMOL_BULLOSA

epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 Q81

Cause of death: ICD-10 Q81

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10 ; C.O.D: 10

Check minimum number of events None

Include endpoints None

Q17_EPIDERMOL_BULLOSA

Extra metadata

Level in the ICD hierarchy 3

First used in FinnGen datafreeze DF4

Parent code in ICD-10 Q8

Name in latin Epidermolysis bullosa

Similar endpoints

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List of similar endpoints to Epidermolysis bullosa based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

Show all endpoint correlations

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	26	16	10
Unadjusted prevalence (%)	0.01	0.01	0.01
Mean age at first event (years)	29.78	35.38	20.81

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:

Survival analyses between endpoints

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Plot

before Epidermolysis bullosa
after Epidermolysis bullosa

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Table

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Drugs most likely to be purchased after Epidermolysis bullosa

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