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)']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
42 |
4. Check minimum number of eventsNone |
42 |
5. Include endpointsNone |
42 |
6. Filter based on genotype QC (FinnGen only) |
42 |
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
Similar endpoints
↥List of similar endpoints to
Huntington disease
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases, wide definition
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
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 | 42 | 22 | 20 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 50.08 | 53.04 | 46.84 |
-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.
CodeWAS (R11)
↥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
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
24
158
2.21
1.67
8.5
7.2
1.2
1.2
mmol/l
1.61
19
128
6
21
3.15
1.57
5.2
6.2
26.5
25.4
mmol/l
—
6
21
19
125
1.95
1.23
2.1
1.9
108.2
104.1
pmol/l
0.12
12
56
10
56
2.03
0.98
1.6
1.7
—
—
—
0
0
15
101
1.75
0.85
5.5
3.1
—
—
—
0
0
19
143
1.60
0.70
5.8
4.5
36.7
36.2
g/l
0.18
19
135
30
340
0.59
0.69
5.2
4.6
2.9
2.8
mmol/l
0.04
25
314
6
38
1.67
0.57
9.3
3.6
—
—
—
0
0
34
365
0.64
0.47
9.2
10.2
22.2
27.1
u/l
2.19
34
356
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
0
16
0.00
0.42
0.0
2.1
—
0.3
—
0
11
37
342
1.69
0.40
13.7
14.6
16.0
21.3
mg/l
0.63
31
264
15
122
1.36
0.33
5.5
3.7
—
—
—
0
0
18
154
1.30
0.27
6.3
4.9
0.0
0.0
estimate
—
7
31
18
156
1.27
0.24
5.1
3.6
0.0
0.0
estimate
—
6
29
5
39
1.32
0.24
1.4
1.7
—
—
—
0
0
18
157
1.26
0.23
5.0
3.5
0.0
0.0
estimate
—
7
32
5
42
1.22
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
150.9
—
0
11
0
11
0.00
0.21
0.0
2.4
—
90.4
—
0
11
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
2.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
2.2
—
0
5
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
37
361
1.21
0.09
16.5
16.3
71.5
77.9
umol/l
1.23
37
361
23
241
0.90
0.06
2.6
3.0
31.3
49.6
u/l
1.40
23
234
22
229
0.92
0.04
3.2
2.9
—
—
—
0
0
32
314
1.08
0.01
16.0
13.4
87.2
84.3
ml/min/173m2
0.40
27
244
16
158
1.02
0.00
3.6
4.6
—
—
—
0
0
8
88
0.89
0.00
3.6
4.4
1.2
2.2
ug/l
—
8
81
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
6.0
—
140.3
—
0
8
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
6
67
0.88
0.00
1.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
60.7
—
0
6
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
2.6
—
3.0
—
0
7
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
35
346
1.07
0.00
18.5
16.4
138.9
139.8
mmol/l
0.91
35
338
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
35
347
1.05
0.00
18.1
16.4
4.0
4.0
mmol/l
0.23
35
338
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
71.1
—
0
7
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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