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Cryoglobulinemia

DOID EFO Endpoint Browser

D3_CRYOGLOBU

cryoglobulinemia: Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease ); and/or cancers of the blood or immune system . Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.

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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 — D89.1
  • Hospital discharge: ICD-9 — 2732A
  • Hospital discharge: ICD-8 — 2754
  • Cause of death: ICD-10 — D89.1
  • Cause of death: ICD-9 — 2732A
  • Cause of death: ICD-8 — 2754

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

49

4. Check minimum number of events

None

49

5. Include endpoints

None

49

6. Filter based on genotype QC (FinnGen only)

45

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 D89
Name in latin Cryoglobulinaemia

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 308 146 161
Only index persons 253 121 132
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 58.79 59.34 58.14
Only index persons 56.02 55.87 56.15

-FinnGen-

Key figures

All Female Male
Number of individuals 45 23 22
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 54.76 50.01 59.73

-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_CRYOGLOBU and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_CRYOGLOBU.

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_CRYOGLOBU – Cryoglobulinemia

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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