Other melanin hyperpigmentation

L12_OTHERMELANIN

obsolete_incontinentia pigmenti achromians: a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown.

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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 L81.4
  • Hospital discharge: ICD-9 7090G
  • Cause of death: ICD-10 L81.4
  • Cause of death: ICD-9 7090G

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

669

4. Check minimum number of events

None

669

5. Include endpoints

None

669

6. Filter based on genotype QC (FinnGen only)

641

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 L81
Name in latin Alia hyperpigmentatio melaninalis

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 5087 3489 1584
Only index persons 4808 3344 1464
Unadjusted period prevalence (%)
Whole population 0.08 0.10 0.04
Only index persons 0.10 0.12 0.06
Median age at first event (years)
Whole population 65.20 65.37 65.10
Only index persons 65.53 65.39 65.84

-FinnGen-

Key figures

All Female Male
Number of individuals 641 425 216
Unadjusted period prevalence (%) 0.15 0.17 0.11
Median age at first event (years) 64.65 62.78 68.33

-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

Mortality – FinRegistry

Association

Association between endpoint L12_OTHERMELANIN and mortality.

Females

Parameter HR [95% CI] p-value
L12_OTHERMELANIN 0.735 [0.65, 0.83] < 0.001
Birth year 0.999 [0.99, 1.01] 0.778

During the follow-up period (1.1.1998 — 31.12.2019), 526 out of 3068 females with L12_OTHERMELANIN died.

Males

Parameter HR [95% CI] p-value
L12_OTHERMELANIN 0.759 [0.63, 0.92] 0.005
Birth year 0.988 [0.98, 1.0] 0.013

During the follow-up period (1.1.1998 — 31.12.2019), 253 out of 1356 males with L12_OTHERMELANIN died.

Mortality risk

Mortality risk for people of age

years, who have L12_OTHERMELANIN.

N-year risk Females Males
1 0.1% 0.146%
5 0.531% 0.976%
10 1.325% 2.501%
15 2.461% 4.56%
20 4.247% 7.678%

Relationships between endpoints

Index endpoint: L12_OTHERMELANIN – Other melanin hyperpigmentation

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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