Other porphyria

E4_PORPHYNAS

obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']

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 E80.2#

Hospital discharge: ICD-9 2771

Hospital discharge: ICD-8 2731

Hospital discharge: excluded ICD-9 2771B

Hospital discharge: excluded ICD-8 27310

Cause of death: ICD-10 E80.2#

Cause of death: ICD-9 2771

Cause of death: ICD-8 2731

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_PORPHYNAS

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E80

Name in latin Alia porphyria

Similar endpoints

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List of similar endpoints to Other 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	41	17	24
Unadjusted prevalence (%)	0.01	0.01	0.02
Mean age at first event (years)	43.09	41.50	44.22

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_PORPHYNAS – Other porphyria
GWS hits:

Survival analyses between endpoints

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Plot

before Other porphyria
after Other porphyria

Loading survival analyses plot

Table

Loading survival analyses table

Drugs most likely to be purchased after Other porphyria

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