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Pervasive developmental disorders excl. Autism + Asperger

DOID EFO Endpoint Browser PheWeb

F5_PERVASIVE

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 — F84
  • Hospital discharge: ICD-9 — 2998|2999B
  • Hospital discharge: excluded ICD-10 — F84.0, F84.1, F84.5
  • Cause of death: ICD-10 — F84
  • Cause of death: ICD-9 — 2998|2999B
  • Cause of death: excluded ICD-10 — F84.0, F84.1, F84.5

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

401

4. Check minimum number of events

None

401

5. Include endpoints

None

401

6. Filter based on genotype QC (FinnGen only)

352

Control definitions (FinnGen only)

Control exclude F5_PSYCHDEV

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 F80-F89
Name in latin Perturbationes formationales pervasivae (in pueritia)

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 13185 3541 9638
Only index persons 10180 2894 7286
Unadjusted period prevalence (%)
Whole population 0.22 0.10 0.27
Only index persons 0.23 0.11 0.28
Median age at first event (years)
Whole population 8.61 10.02 8.07
Only index persons 10.22 11.89 9.55

-FinnGen-

Key figures

All Female Male
Number of individuals 352 139 213
Unadjusted period prevalence (%) 0.09 0.05 0.11
Median age at first event (years) 13.33 15.75 11.75

-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 F5_PERVASIVE and mortality.

Females

Parameter HR [95% CI] p-value
F5_PERVASIVE 4.437 [2.83, 6.96] < 0.001
Birth year 0.992 [0.98, 1.0] 0.09

During the follow-up period (1.1.1998 — 31.12.2019), 58 out of 2735 females with F5_PERVASIVE died.

Males

Parameter HR [95% CI] p-value
F5_PERVASIVE 2.447 [1.92, 3.12] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 94 out of 7819 males with F5_PERVASIVE died.

Mortality risk

Mortality risk for people of age

years, who have F5_PERVASIVE.

N-year risk Females Males
1 0.416% 0.596%
5 2.348% 2.963%
10 6.356% 6.658%
15 12.009% 12.015%
20 20.443% 20.517%

Relationships between endpoints

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Index endpoint: F5_PERVASIVE – Pervasive developmental disorders excl. Autism + Asperger

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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