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Epidermolysis bullosa

DOID EFO MESH SNOMED PheWeb

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

392423 individuals

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Apply sex-specific rule None

392423

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Check conditions None

392423

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

Hospital Discharge: ICD-10 Q81
Cause of death: ICD-10 Q81

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

32

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Check minimum number of events None

32

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Include endpoints None

32

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Remove individuals based on genotype QC

32

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Q17_EPIDERMOL_BULLOSA

Control definitions

Control exclude Q17_OTHER_CONGEN_MALFO

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

Summary Statistics

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Key figures

All Female Male
Number of individuals 32 19 13
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 30.21 35.73 22.15

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

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Epidermolysis bullosa

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Endpoint not on priority list, no data to show.