Disorders of sphingolipid metabolism and other lipid storage disorders

DOID MESH PheWeb

No definition available.

Endpoint definition

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FinnGen phenotype data

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 E75

Cause of death: ICD-10 E75

Check pre-conditions None

Include endpoints

E4_GM2GANGLIO

E4_GANGLIOSID

E4_SPHIGLOLIPNAS

E4_NEUROCER

E4_LIPIDSTORNAS

Check conditions None

Apply sex-specific rule None

E4_SPHINGOLIP

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 sphingolipidorum et aliae perturbationes accumulationis lipidorum

Similar endpoints

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List of similar endpoints to Disorders of sphingolipid metabolism and other lipid storage disorders 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	64	39	25
Unadjusted prevalence (%)	0.02	0.03	0.02
Mean age at first event (years)	49.84	49.88	49.79

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Correlations

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Index endpoint: E4_SPHINGOLIP – Disorders of sphingolipid metabolism and other lipid storage disorders
GWS hits:

Survival analyses between endpoints

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Plot

before Disorders of sphingolipid metabolism and other lipid storage disorders
after Disorders of sphingolipid metabolism and other lipid storage disorders

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Table

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Drugs most likely to be purchased after Disorders of sphingolipid metabolism and other lipid storage disorders

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