This is a non-core endpoint: only basic statistics are computed.
Mucopolysaccharidosis, other/unspecified
E4_MUCOPOLYNAS
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
Similar endpoints
↥List of similar endpoints to
Mucopolysaccharidosis, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Disorders of glycosaminoglycan metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Cardiovascular diseases (excluding rheumatic etc)
- Persons encountering health services for examination and investigation
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 184 | 91 | 91 |
| Only index persons | 117 | 56 | 61 |
| 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 | 11.54 | 11.99 | 9.93 |
| Only index persons | 8.66 | 9.41 | 7.97 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 6 | - | - |
| Unadjusted period prevalence (%) | 0.00 | - | - |
| Median age at first event (years) | 12.40 | - | - |
-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
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
6
16
+∞
3.09
6.0
3.7
—
—
—
0
0
(3044889) 12 lead EKG panel
6
24
+∞
2.18
5.8
2.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
6
41
+∞
0.77
16.8
10.9
mg/l
16.1
19.9
—
6
30
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
0
18
0.00
0.75
0.0
2.2
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
0
17
0.00
0.49
0.0
1.6
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
6
49
+∞
0.24
21.5
6.7
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
6
50
+∞
0.24
27.0
9.5
umol/l
65.3
73.4
—
6
50
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
0
10
0.00
0.24
0.0
1.3
—
1.2
—
0
5
(3017143) Hepatitis C virus Ab [Presence] in Serum
0
10
0.00
0.24
0.0
1.5
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
0
9
0.00
0.23
0.0
3.0
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
0
13
0.00
0.23
0.0
1.5
—
—
—
0
0
(3000492) Spirometry study
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
10.1
—
0
7
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028026) IgM [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
1.0
—
0
5
(3050129) First trimester maternal screen panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
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
(1002224) Polysomnography panel
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3017446) Testosterone [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
20.0
—
0
5
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
0
7
0.00
0.00
0.0
3.9
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
0
7
0.00
0.00
0.0
1.7
—
1.3
—
0
7
Mortality – FinRegistry
↥Association
Association between endpoint E4_MUCOPOLYNAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_MUCOPOLYNAS.| 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_MUCOPOLYNAS – Mucopolysaccharidosis, other/unspecified
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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