Defects in post-translational modification of lysosomal enzymes

PheWeb

E4_LYSOPOSTTRANS

No definition available.

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

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Hospital Discharge: ICD-10 E77.0

Hospital discharge: ICD-9 $!$

Hospital discharge: ICD-8 $!$

Cause of death: ICD-10 E77.0

Cause of death: ICD-9 $!$

Cause of death: ICD-8 $!$

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

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E4_LYSOPOSTTRANS

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E77

Name in latin Defectus modificationis enzymorum lysosomalium post translationem

Similar endpoints

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List of similar endpoints to Defects in post-translational modification of lysosomal enzymes 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	8	7	-
Unadjusted prevalence (%)	0.00	0.00	-
Mean age at first event (years)	50.73	48.58	-

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_LYSOPOSTTRANS – Defects in post-translational modification of lysosomal enzymes
GWS hits:

Survival analyses between endpoints

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Plot

before Defects in post-translational modification of lysosomal enzymes
after Defects in post-translational modification of lysosomal enzymes

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Drugs most likely to be purchased after Defects in post-translational modification of lysosomal enzymes

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