This is a non-core endpoint: only basic statistics are computed.
Mucopolysaccharidosis, type I
E4_MUCOPOLY1
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) |
6 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E76
Name in latin
Mucopolysaccharidosis, typus I
Similar endpoints
↥List of similar endpoints to
Mucopolysaccharidosis, type I
based on the number of shared cases.
Similar with more cases:
- Disorders of glycosaminoglycan metabolism
- Metabolic disorders
- Symptoms and signs involving the circulatory and respiratory systems
- Endocrine, nutritional and metabolic diseases
- Diseases of the eye and adnexa
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 | 84 | 36 | 48 |
| Only index persons | 64 | 27 | 37 |
| 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 | - | 36.77 | 23.06 |
| Only index persons | 36.80 | 45.29 | 30.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 6 | - | - |
| Unadjusted period prevalence (%) | 0.00 | - | - |
| Median age at first event (years) | 39.81 | - | - |
-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_MUCOPOLY1 and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_MUCOPOLY1.| 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_MUCOPOLY1 – Mucopolysaccharidosis, type I
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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