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Disorder of carbohydrate metabolism, other/unspecified

DOID EFO MESH PheWeb

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

356077 individuals

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Apply sex-specific rule None

356077

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Check conditions None

356077

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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]

80

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Check pre-conditions, main-only, mode, ICD version

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

80

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Check minimum number of events None

80

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Include endpoints None

80

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E4_CARBONAS

Extra metadata

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

Summary Statistics

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Key figures

All Female Male
Number of individuals 80 40 40
Unadjusted prevalence (%) 0.02 0.02 0.03
Mean age at first event (years) 27.85 28.88 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

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

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