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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

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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.

37

4. Check minimum number of events

None

37

5. Include endpoints

None

37

6. Filter based on genotype QC (FinnGen only)

37

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 37 21 16
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 49.36 38.55 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.

CodeWAS (R11)

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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

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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