Congenital ichthyosis

Q17_CONGEN_ICHTHYOSIS

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 Q80
  • Cause of death: ICD-10 Q80

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

99

4. Check minimum number of events

None

99

5. Include endpoints

None

99

6. Filter based on genotype QC (FinnGen only)

97

Control definitions (FinnGen only)

Control exclude Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q8
Name in latin Ichthyosis congenita

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 1177 430 744
Only index persons 1017 379 638
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 19.16 24.30 16.03
Only index persons 20.43 25.76 17.26

-FinnGen-

Key figures

All Female Male
Number of individuals 97 49 48
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 36.90 37.40 36.38

-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 Q17_CONGEN_ICHTHYOSIS and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_ICHTHYOSIS 2.725 [1.83, 4.05] < 0.001
Birth year 0.999 [0.99, 1.01] 0.719

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_ICHTHYOSIS 2.096 [1.48, 2.97] < 0.001
Birth year 0.987 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ICHTHYOSIS.

N-year risk Females Males
1 0.288% 0.393%
5 1.607% 2.023%
10 3.991% 5.884%
15 8.222% 11.596%
20 14.303% 19.161%

Relationships between endpoints

Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis

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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