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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
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.
CodeWAS (R11)
↥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
unit
cases
controls
-log10(p)
N cases
N controls
(40768804) Tissue Pathology biopsy report
0
21
0.00
0.78
0.0
1.9
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
11
0.00
0.24
0.0
1.5
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
0
11
0.00
0.24
0.0
2.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
0
9
0.00
0.23
0.0
2.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3002256) Pathology report gross observation
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3020891) Body temperature
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3017732) Neutrophils [#/volume] in Blood
0
5
0.00
0.00
0.0
1.2
—
2.3
—
0
5
(3000494) Fungus identified in Specimen by Culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3000492) Spirometry study
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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