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Profound mental retardation

DOID EFO Endpoint Browser

F5_PRORET

mental retardation: ['Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)']

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — F73
  • Hospital discharge: ICD-9 — 3182
  • Hospital discharge: ICD-8 — 314
  • Cause of death: ICD-10 — F73
  • Cause of death: ICD-9 — 3182
  • Cause of death: ICD-8 — 314

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

41

4. Check minimum number of events

None

41

5. Include endpoints

None

41

6. Filter based on genotype QC (FinnGen only)

41

Control definitions (FinnGen only)

Control exclude
F5_MENTRET

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
F70-F79
Name in latin
Retardatio mentalis profunda

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 3013 1422 1589
Only index persons 2026 948 1078
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.04
Only index persons 0.04 0.03 0.04
Median age at first event (years)
Whole population 23.23 24.05 22.46
Only index persons 24.02 25.08 23.09

-FinnGen-

Key figures

All Female Male
Number of individuals 41 22 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 23.28 30.73 14.65

-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

Not a core endpoint, no data to show.

CodeWAS (R11)

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CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

No data available

Mortality – FinRegistry

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Association

Association between endpoint F5_PRORET and mortality.

Females

Parameter HR [95% CI] p-value
F5_PRORET 11.864 [6.57, 21.41] < 0.001
Birth year 0.994 [0.99, 1.0] 0.157

During the follow-up period (1.1.1998 — 31.12.2019), 180 out of 557 females with F5_PRORET died.

Males

Parameter HR [95% CI] p-value
F5_PRORET 10.607 [7.03, 15.99] < 0.001
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 199 out of 614 males with F5_PRORET died.

Mortality risk

Mortality risk for people of age

years, who have F5_PRORET.

N-year risk Females Males
1 1.125% 1.791%
5 6.26% 10.254%
10 15.144% 24.518%
15 27.127% 43.214%
20 43.132% 60.983%

Relationships between endpoints

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Index endpoint: F5_PRORET – Profound mental retardation

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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