Hereditary hypogammaglobulinemia

D3_HEREDHYPOGAMMA

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 D80.0
  • Hospital discharge: ICD-9 2790A
  • Cause of death: ICD-10 D80.0
  • Cause of death: ICD-9 2790A

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

113

4. Check minimum number of events

None

113

5. Include endpoints

None

113

6. Filter based on genotype QC (FinnGen only)

110

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D80
Name in latin Hypogammaglobulinaemia hereditaria

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 605 359 244
Only index persons 530 325 205
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 42.72 45.82 38.04
Only index persons 42.31 45.45 37.32

-FinnGen-

Key figures

All Female Male
Number of individuals 110 71 39
Unadjusted period prevalence (%) 0.02 0.03 0.02
Median age at first event (years) 47.16 47.68 46.22

-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

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint D3_HEREDHYPOGAMMA and mortality.

Females

Parameter HR [95% CI] p-value
D3_HEREDHYPOGAMMA 3.534 [2.19, 5.71] < 0.001
Birth year 0.991 [0.98, 1.0] 0.052

During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 290 females with D3_HEREDHYPOGAMMA died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HEREDHYPOGAMMA.

N-year risk Females Males
1 0.309% No data
5 1.859% No data
10 4.472% No data
15 8.584% No data
20 14.501% No data

Relationships between endpoints

Index endpoint: D3_HEREDHYPOGAMMA – Hereditary hypogammaglobulinemia

GWS hits: 1

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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