Disorder of carbohydrate metabolism, other/unspecified

E4_CARBONAS

renal glycosuria: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.

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 E74.80, E74.89, E74.9

Hospital discharge: ICD-9 271[4-9]

Hospital discharge: ICD-8 271[8-9]

Cause of death: ICD-10 E74.80, E74.89, E74.9

Cause of death: ICD-9 271[4-9]

Cause of death: ICD-8 271[8-9]

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_CARBONAS

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Similar endpoints

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List of similar endpoints to Disorder of carbohydrate metabolism, other/unspecified 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	67	37	30
Unadjusted prevalence (%)	0.02	0.02	0.02
Mean age at first event (years)	28.50	30.12	26.50

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_CARBONAS – Disorder of carbohydrate metabolism, other/unspecified
GWS hits:

Survival analyses between endpoints

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Plot

before Disorder of carbohydrate metabolism, other/unspecified
after Disorder of carbohydrate metabolism, other/unspecified

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Table

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Drugs most likely to be purchased after Disorder of carbohydrate metabolism, other/unspecified

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