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This is a non-core endpoint: only basic statistics are computed.

Mucopolysaccharidosis, type II

E4_MUCOPOLY2

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E76.1
  • Cause of death: ICD-10 E76.1

2 out of 7 registries used, show all original rules.

-

4. Check minimum number of events

None

-

5. Include endpoints

None

-

6. Filter based on genotype QC (FinnGen only)

None

-

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 II

Similar endpoints

List of similar endpoints to Mucopolysaccharidosis, type II based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

None

Venn diagram with a set fully inside an highlighted set 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 28 6 22
Only index persons 13 - 9
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 - 0.00
Median age at first event (years)
Whole population - 28.16 8.32
Only index persons 19.85 - 16.16

-FinnGen-

Key figures

All Female Male
Number of individuals - - -
Unadjusted period prevalence (%) - - -
Median age at first event (years) - - -

-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_MUCOPOLY2 and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_MUCOPOLY2.

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_MUCOPOLY2 – Mucopolysaccharidosis, type II

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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