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Anaemia due to enzyme disorders

DOID EFO Endpoint Browser

D3_ANAEMIAENZYME

congenital nonspherocytic hemolytic anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.

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Endpoint definition

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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 — D55
  • Hospital discharge: ICD-9 — 282[2-3]
  • Hospital discharge: ICD-8 — 282[2-3]
  • Cause of death: ICD-10 — D55
  • Cause of death: ICD-9 — 282[2-3]
  • Cause of death: ICD-8 — 282[2-3]

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

35

4. Check minimum number of events

None

35

5. Include endpoints

None

35

6. Filter based on genotype QC (FinnGen only)

33

Control definitions (FinnGen only)

Control exclude D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D55-D59
Name in latin Anaemiae ex perturbationibus enzymaticis

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 378 171 200
Only index persons 293 140 153
Unadjusted period prevalence (%)
Whole population 0.01 0.00 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 40.96 51.70 31.85
Only index persons 41.86 46.03 38.05

-FinnGen-

Key figures

All Female Male
Number of individuals 33 19 14
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 50.59 41.04 63.55

-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

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Association

Association between endpoint D3_ANAEMIAENZYME and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_ANAEMIAENZYME.

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

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Index endpoint: D3_ANAEMIAENZYME – Anaemia due to enzyme disorders

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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