This is a non-core endpoint: only basic statistics are computed.
Maple-syrup-urine disease
E4_MAPLESYRUP
No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
7 |
4. Check minimum number of eventsNone |
7 |
5. Include endpointsNone |
7 |
6. Filter based on genotype QC (FinnGen only) |
6 |
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
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified
- Any operation in hilmo
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 | 6 | - | - |
| Unadjusted period prevalence (%) | 0.00 | - | - |
| Median age at first event (years) | 68.22 | - | - |
-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.
CodeWAS
↥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.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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