Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

DOID MESH PheWeb

E4_BRANCHAMINOFATAC

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 E71

Cause of death: ICD-10 E71

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

E4_MAPLESYRUP

E4_BRANCHAMINONAS

E4_FATTYACID

E4_BRANCHAMINOFATAC

Extra metadata

Level in the ICD hierarchy 3

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E70-E90

Name in latin Perturbationes metabolismi acidorum aminoicorum cum catenis ramosis et acidorum lipidicorum

Similar endpoints

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List of similar endpoints to Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

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Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	17	7	10
Unadjusted prevalence (%)	0.01	0.00	0.01
Mean age at first event (years)	40.01	45.07	36.48

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_BRANCHAMINOFATAC – Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
GWS hits:

Survival analyses between endpoints

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Plot

before Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
after Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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Table

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Drugs most likely to be purchased after Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

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