Lipomatosis, not elsewhere classified

E4_LIPOMATOSIS

lipomatosis: an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.

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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 E88.2#
  • Cause of death: ICD-10 E88.2#

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

85

4. Check minimum number of events

None

85

5. Include endpoints

None

85

6. Filter based on genotype QC (FinnGen only)

83

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E88
Name in latin Lipomatosis non alibi classificata

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 515 278 233
Only index persons 487 269 218
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 53.98 54.63 53.59
Only index persons 54.26 54.83 53.56

-FinnGen-

Key figures

All Female Male
Number of individuals 83 49 34
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 54.91 55.23 54.44

-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 E4_LIPOMATOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LIPOMATOSIS.

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

Index endpoint: E4_LIPOMATOSIS – Lipomatosis, not elsewhere classified

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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