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Disorder of carbohydrate metabolism, other/unspecified

DOID EFO Endpoint Browser 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.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

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.

118

4. Check minimum number of events

None

118

5. Include endpoints

None

118

6. Filter based on genotype QC (FinnGen only)

118

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 944 427 508
Only index persons 762 350 412
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.02
Median age at first event (years)
Whole population 27.25 34.74 20.56
Only index persons 25.83 32.23 20.38

-FinnGen-

Key figures

All Female Male
Number of individuals 118 51 67
Unadjusted period prevalence (%) 0.02 0.02 0.03
Median age at first event (years) 23.86 28.29 20.49

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

No data

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

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CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
111
Matched controls
1111
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
83.0
69
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
12.7
12
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.4
7
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
7.4
7
*

Mortality – FinRegistry

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Association

Association between endpoint E4_CARBONAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_CARBONAS.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

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

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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