Disorder of carbohydrate metabolism, other/unspecified

Description

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.

Data source
FinnGen phenocode E4_CARBONAS
Hospital Discharge registry ICD-10: E748/E749, ICD-8: 271[8-9]
Cause of Death registry ICD-10: E749/E748, ICD-8: 271[8-9]
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 9432
GWAS catalog 1001151

Key figures

Sex All Female Male
Number of individuals 27 14 13
Unadjusted prevalence (%) 0.02 0.02 0.02
Mean age at first event (years) 26.3 28.73 23.69
Median number of events / individual 1 1 1

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 11.11 7.14 15.38
Case fatality at 5-years (%) 0.0 0.0 0.0

Associations