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This is a non-core endpoint: only basic statistics are computed.

Maple-syrup-urine disease

E4_MAPLESYRUP

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 E71.0
  • Hospital discharge: ICD-8 27040
  • Cause of death: ICD-10 E71.0
  • Cause of death: ICD-8 27040

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

6

4. Check minimum number of events

None

6

5. Include endpoints

None

6

6. Filter based on genotype QC (FinnGen only)

5

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF4
Parent code in ICD-10 E71
Name in latin Morbus urinae syrupi aceris

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Not enough data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 43 19 24
Only index persons 34 16 18
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 23.89 41.24
Only index persons 48.28 48.84 47.78

-FinnGen-

Key figures

All Female Male
Number of individuals 5 - -
Unadjusted period prevalence (%) 0.00 - -
Median age at first event (years) 66.23 - -

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint E4_MAPLESYRUP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_MAPLESYRUP.

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

Index endpoint: E4_MAPLESYRUP – Maple-syrup-urine disease

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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