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Calcinosis cutis

L12_CALCINOSISCUTIS

connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.

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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 L94.2
  • Cause of death: ICD-10 L94.2

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

50

4. Check minimum number of events

None

50

5. Include endpoints

None

50

6. Filter based on genotype QC (FinnGen only)

48

Control definitions (FinnGen only)

Control exclude L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 L94
Name in latin Calcinosis cutis

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 288 172 115
Only index persons 267 159 108
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 64.69 68.70 58.79
Only index persons 64.73 68.91 58.58

-FinnGen-

Key figures

All Female Male
Number of individuals 48 29 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 62.94 65.09 59.67

-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 L12_CALCINOSISCUTIS and mortality.

Females

Parameter HR [95% CI] p-value
L12_CALCINOSISCUTIS 4.812 [1.96, 11.82] < 0.001
Birth year 0.998 [0.99, 1.01] 0.559

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 132 females with L12_CALCINOSISCUTIS died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_CALCINOSISCUTIS.

N-year risk Females Males
1 0.542% No data
5 3.161% No data
10 7.911% No data
15 14.384% No data
20 23.902% No data

Relationships between endpoints

Index endpoint: L12_CALCINOSISCUTIS – Calcinosis cutis

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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