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

FinnGen phenotype data

392423 individuals

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Apply sex-specific rule None

392423

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Check conditions None

392423

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Check pre-conditions, main-only, mode, registry filters

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]

2 out of 7 registries used, show all original rules.

85

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Check minimum number of events None

85

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Include endpoints None

85

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Remove individuals based on genotype QC

84

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E4_CARBONAS

Control definitions

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Summary Statistics

Key figures

All Female Male
Number of individuals 84 40 44
Unadjusted prevalence (%) 0.02 0.02 0.03
Mean age at first event (years) 28.18 29.68 26.82

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

Index endpoint: E4_CARBONAS – Disorder of carbohydrate metabolism, other/unspecified
GWS hits:

Survival analyses between endpoints

Not a core endpoint, no data to show.

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

Endpoint not on priority list, no data to show.