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Torticollis

DOID EFO Endpoint Browser PheWeb

M13_TORTICOLLIS

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 — M43.6
  • Hospital discharge: ICD-9 — 7235
  • Hospital discharge: ICD-8 — 7172
  • Cause of death: ICD-10 — M43.6
  • Cause of death: ICD-9 — 7235
  • Cause of death: ICD-8 — 7172

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

608

4. Check minimum number of events

None

608

5. Include endpoints

None

608

6. Filter based on genotype QC (FinnGen only)

587

Control definitions (FinnGen only)

Control exclude M13_DORSOPATHY

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M43
Name in latin Torticollis

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 9116 4207 4879
Only index persons 7518 3531 3987
Unadjusted period prevalence (%)
Whole population 0.13 0.12 0.14
Only index persons 0.14 0.13 0.15
Median age at first event (years)
Whole population 10.56 12.33 8.83
Only index persons 12.61 14.72 10.74

-FinnGen-

Key figures

All Female Male
Number of individuals 587 348 239
Unadjusted period prevalence (%) 0.13 0.14 0.12
Median age at first event (years) 24.08 25.42 22.13

-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 M13_TORTICOLLIS and mortality.

Females

Parameter HR [95% CI] p-value
M13_TORTICOLLIS 1.139 [0.93, 1.4] 0.219
Birth year 0.997 [0.99, 1.01] 0.44

During the follow-up period (1.1.1998 — 31.12.2019), 127 out of 2594 females with M13_TORTICOLLIS died.

Males

Parameter HR [95% CI] p-value
M13_TORTICOLLIS 1.233 [1.0, 1.51] 0.045
Birth year 0.983 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 149 out of 3021 males with M13_TORTICOLLIS died.

Mortality risk

Mortality risk for people of age

years, who have M13_TORTICOLLIS.

N-year risk Females Males
1 0.114% 0.207%
5 0.744% 1.233%
10 1.772% 3.16%
15 3.443% 5.849%
20 6.289% 9.76%

Relationships between endpoints

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Index endpoint: M13_TORTICOLLIS – Torticollis

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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