Hereditary erythropoietic porphyria

DOID MESH PheWeb

E4_HERERYPOR

No definition available.

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 E80.0

Hospital discharge: ICD-9 $!$

Hospital discharge: ICD-8 $!$

Cause of death: ICD-10 E80.0

Cause of death: ICD-9 $!$

Cause of death: ICD-8 $!$

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

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

Check minimum number of events None

Include endpoints None

E4_HERERYPOR

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E80

Name in latin Porphyria erythropoetica hereditaria

Similar endpoints

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List of similar endpoints to Hereditary erythropoietic porphyria 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	14	5	9
Unadjusted prevalence (%)	0.00	0.00	0.01
Mean age at first event (years)	43.36	54.86	36.98

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: E4_HERERYPOR – Hereditary erythropoietic porphyria
GWS hits:

Survival analyses between endpoints

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Plot

before Hereditary erythropoietic porphyria
after Hereditary erythropoietic porphyria

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Table

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Drugs most likely to be purchased after Hereditary erythropoietic porphyria

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