Cervicocranial syndrome

M13_CERVICOCRANSDR

Barre-Lieou syndrome: A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.

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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 M53.0
  • Hospital discharge: ICD-9 7232
  • Hospital discharge: ICD-8 7281
  • Cause of death: ICD-10 M53.0
  • Cause of death: ICD-9 7232
  • Cause of death: ICD-8 7281

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

4206

4. Check minimum number of events

None

4206

5. Include endpoints

None

4206

6. Filter based on genotype QC (FinnGen only)

4072

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 M53
Name in latin Syndroma cervicocraniale

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 33336 21995 11108
Only index persons 30013 20257 9756
Unadjusted period prevalence (%)
Whole population 0.52 0.63 0.31
Only index persons 0.62 0.74 0.37
Median age at first event (years)
Whole population 53.60 53.91 53.13
Only index persons 52.63 52.94 51.98

-FinnGen-

Key figures

All Female Male
Number of individuals 4072 2896 1176
Unadjusted period prevalence (%) 0.98 1.14 0.59
Median age at first event (years) 53.28 52.32 55.64

-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

Association

Association between endpoint M13_CERVICOCRANSDR and mortality.

Females

Parameter HR [95% CI] p-value
M13_CERVICOCRANSDR 0.903 [0.81, 1.01] 0.063
Birth year 0.994 [0.99, 1.0] 0.167

During the follow-up period (1.1.1998 — 31.12.2019), 1651 out of 15413 females with M13_CERVICOCRANSDR died.

Males

Parameter HR [95% CI] p-value
M13_CERVICOCRANSDR 0.943 [0.84, 1.06] 0.311
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 1046 out of 7592 males with M13_CERVICOCRANSDR died.

Mortality risk

Mortality risk for people of age

years, who have M13_CERVICOCRANSDR.

N-year risk Females Males
1 0.081% 0.17%
5 0.512% 1.076%
10 1.251% 2.633%
15 2.462% 4.937%
20 4.302% 8.479%

Relationships between endpoints

Index endpoint: M13_CERVICOCRANSDR – Cervicocranial syndrome

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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