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Acanthosis nigricans

DOID EFO Endpoint Browser PheWeb

L12_ACANTHNIGRICANS

acanthosis nigricans: a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas.

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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 — L83
  • Hospital discharge: ICD-9 — 7012A
  • Hospital discharge: ICD-8 — 7011
  • Cause of death: ICD-10 — L83
  • Cause of death: ICD-9 — 7012A
  • Cause of death: ICD-8 — 7011

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

116

4. Check minimum number of events

None

116

5. Include endpoints

None

116

6. Filter based on genotype QC (FinnGen only)

108

Control definitions (FinnGen only)

Control exclude L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 L80-L99
Name in latin Acanthosis nigricans

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 1289 650 620
Only index persons 1001 528 473
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 35.84 38.52 32.41
Only index persons 27.01 31.54 21.95

-FinnGen-

Key figures

All Female Male
Number of individuals 108 63 45
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 28.70 32.98 22.71

-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

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Association

Association between endpoint L12_ACANTHNIGRICANS and mortality.

Females

Parameter HR [95% CI] p-value
L12_ACANTHNIGRICANS 1.857 [1.28, 2.7] 0.001
Birth year 0.999 [0.99, 1.01] 0.827

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 312 females with L12_ACANTHNIGRICANS died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_ACANTHNIGRICANS.

N-year risk Females Males
1 0.187% No data
5 1.092% No data
10 2.893% No data
15 5.937% No data
20 10.56% No data

Relationships between endpoints

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Index endpoint: L12_ACANTHNIGRICANS – Acanthosis nigricans

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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