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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Huntington disease

G6_HUNTINGTON

obsolete_Huntington's disease: ['A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.', 'A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)']

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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 G10
  • Hospital discharge: ICD-9 3334A
  • Hospital discharge: ICD-8 33100
  • Cause of death: ICD-10 G10
  • Cause of death: ICD-9 3334A
  • Cause of death: ICD-8 33100

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

37

4. Check minimum number of events

None

37

5. Include endpoints

None

37

6. Filter based on genotype QC (FinnGen only)

35

Control definitions (FinnGen only)

Control exclude G6_NEUATR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G10-G13
Name in latin Morbus Huntington

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 576 300 267
Only index persons 422 230 192
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 57.44 57.08 57.37
Only index persons 56.47 56.80 56.07

-FinnGen-

Key figures

All Female Male
Number of individuals 35 18 17
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 58.45 56.63 60.37

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint G6_HUNTINGTON and mortality.

Females

Parameter HR [95% CI] p-value
G6_HUNTINGTON 3.689 [2.58, 5.28] < 0.001
Birth year 0.994 [0.99, 1.0] 0.177

During the follow-up period (1.1.1998 — 31.12.2019), 101 out of 233 females with G6_HUNTINGTON died.

Males

Parameter HR [95% CI] p-value
G6_HUNTINGTON 4.281 [2.63, 6.98] < 0.001
Birth year 0.989 [0.98, 1.0] 0.019

During the follow-up period (1.1.1998 — 31.12.2019), 125 out of 211 males with G6_HUNTINGTON died.

Mortality risk

Mortality risk for people of age

years, who have G6_HUNTINGTON.

N-year risk Females Males
1 0.368% 0.785%
5 2.324% 4.79%
10 5.626% 12.173%
15 10.095% 22.838%
20 16.027% 35.987%

Relationships between endpoints

Index endpoint: G6_HUNTINGTON – Huntington disease

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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