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

Congenital dyserythropoietic anaemia

D3_CONGENDYSERYTHANAEMIA

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 D64.4
  • Cause of death: ICD-10 D64.4

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

23

4. Check minimum number of events

None

23

5. Include endpoints

None

23

6. Filter based on genotype QC (FinnGen only)

21

Control definitions (FinnGen only)

Control exclude D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D64
Name in latin Anaemia dyserythropoetica congenita

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 242 127 112
Only index persons 165 97 68
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 70.67 72.38 68.67
Only index persons 65.83 66.47 64.92

-FinnGen-

Key figures

All Female Male
Number of individuals 21 8 13
Unadjusted period prevalence (%) 0.01 0.00 0.01
Median age at first event (years) 63.53 56.55 67.83

-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 D3_CONGENDYSERYTHANAEMIA and mortality.

Females

Parameter HR [95% CI] p-value
D3_CONGENDYSERYTHANAEMIA 2.533 [1.71, 3.76] < 0.001
Birth year 0.994 [0.99, 1.0] 0.187

During the follow-up period (1.1.1998 — 31.12.2019), 68 out of 123 females with D3_CONGENDYSERYTHANAEMIA died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_CONGENDYSERYTHANAEMIA.

N-year risk Females Males
1 0.3% No data
5 1.5% No data
10 3.515% No data
15 6.704% No data
20 11.991% No data

Relationships between endpoints

Index endpoint: D3_CONGENDYSERYTHANAEMIA – Congenital dyserythropoietic anaemia

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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