This is a non-core endpoint: only basic statistics are computed.
Maple-syrup-urine disease
E4_MAPLESYRUP
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
6 |
4. Check minimum number of eventsNone |
6 |
5. Include endpointsNone |
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
Similar endpoints
↥List of similar endpoints to
Maple-syrup-urine disease
based on the number of shared cases.
Similar with more cases:
- Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Neurological diseases
- Persons encountering health services for examination and investigation
Similar with less cases:
None
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 dataMales
No dataMortality 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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