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

See these related core endpoints for full statistics:

Disorders of urea cycle metabolism

E4_UREACYCLE

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 E72.2
  • Hospital discharge: ICD-9 2706
  • Cause of death: ICD-10 E72.2
  • Cause of death: ICD-9 2706

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

24

4. Check minimum number of events

None

24

5. Include endpoints

None

24

6. Filter based on genotype QC (FinnGen only)

24

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 E72
Name in latin Perturbationes cycli urealis

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 302 123 178
Only index persons 237 102 135
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.01
Median age at first event (years)
Whole population 43.32 44.19 42.61
Only index persons 46.36 45.17 47.26

-FinnGen-

Key figures

All Female Male
Number of individuals 24 13 11
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 46.37 33.92 61.08

-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_UREACYCLE and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
E4_UREACYCLE 9.479 [3.56, 25.26] < 0.001
Birth year 0.994 [0.98, 1.0] 0.24

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 138 males with E4_UREACYCLE died.

Mortality risk

Mortality risk for people of age

years, who have E4_UREACYCLE.

N-year risk Females Males
1 No data 2.198%
5 No data 12.302%
10 No data 29.894%
15 No data 51.368%
20 No data 71.397%

Relationships between endpoints

Index endpoint: E4_UREACYCLE – Disorders of urea cycle metabolism

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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