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Other extrapyramidal and movement disorders in other diseases

DOID EFO Endpoint Browser PheWeb

G6_XTRAPYROTH

Stiff-Person syndrome: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.

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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 — G25, G26*
  • Hospital discharge: ICD-9 — 333
  • Hospital discharge: excluded ICD-9 — 3330|3336
  • Cause of death: ICD-10 — G25, G26*
  • Cause of death: ICD-9 — 333
  • Cause of death: excluded ICD-9 — 3330|3336

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

6071

4. Check minimum number of events

None

6071

5. Include endpoints

8182

6. Filter based on genotype QC (FinnGen only)

7921

Control definitions (FinnGen only)

Control exclude G6_XTRAPYR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF10

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 57572 32364 24873
Only index persons 52038 29908 22130
Unadjusted period prevalence (%)
Whole population 0.82 0.93 0.69
Only index persons 0.99 1.10 0.84
Median age at first event (years)
Whole population 66.04 66.60 65.27
Only index persons 65.34 65.93 64.55

-FinnGen-

Key figures

All Female Male
Number of individuals 7921 4660 3261
Unadjusted period prevalence (%) 1.75 1.83 1.64
Median age at first event (years) 63.65 61.78 66.32

-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

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Association

Association between endpoint G6_XTRAPYROTH and mortality.

Females

Parameter HR [95% CI] p-value
G6_XTRAPYROTH 1.297 [1.18, 1.42] < 0.001
Birth year 0.995 [0.99, 1.0] 0.201

During the follow-up period (1.1.1998 — 31.12.2019), 5348 out of 24658 females with G6_XTRAPYROTH died.

Males

Parameter HR [95% CI] p-value
G6_XTRAPYROTH 1.541 [1.4, 1.7] < 0.001
Birth year 0.99 [0.98, 1.0] 0.023

During the follow-up period (1.1.1998 — 31.12.2019), 5694 out of 19166 males with G6_XTRAPYROTH died.

Mortality risk

Mortality risk for people of age

years, who have G6_XTRAPYROTH.

N-year risk Females Males
1 0.113% 0.318%
5 0.748% 1.726%
10 1.92% 4.587%
15 3.477% 8.658%
20 6.49% 14.437%

Relationships between endpoints

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Index endpoint: G6_XTRAPYROTH – Other extrapyramidal and movement disorders in other diseases

GWS hits: 4

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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