charcot-marie-tooth disease, axonal, type 2t: ['Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).']
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. |
311 |
4. Check minimum number of eventsNone |
311 |
5. Include endpointsNone |
311 |
6. Filter based on genotype QC (FinnGen only) |
311 |
Control definitions (FinnGen only)
- Control exclude
- G6_POLYNEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G60
- Name in latin
- Neuropathia motoria et sensoria hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary motor and sensory neuropathy
based on the number of shared cases.
Similar with more cases:
- Polyneuropathies and other disorders of the peripheral 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 | 2275 | 1031 | 1229 |
| Only index persons | 2023 | 939 | 1084 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 46.31 | 45.50 | 46.92 |
| Only index persons | 45.51 | 45.04 | 45.92 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 311 | 163 | 148 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | 48.94 | 45.18 | 53.09 |
-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
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.
Matched cohort
- Matched cases
- 277
- Matched controls
- 2769
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
+∞
323.0
266
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
239.4
97.3
95
6
Z31.5
ICD-10 Finland
Genetic counselling
14.5
40.4
71
64
G60.9
ICD-10 Finland
Hereditary and idiopathic neuropathy, unspecified
+∞
27.6
26
*
N99
ICPC
Neurological disease other
46.6
27.5
33
8
33000
ICD-8 Finland
Hereditary neuromuscular disorders, Neuropathic muscular atrophy
+∞
22.2
21
*
G62.8
ICD-10 Finland
Other specified polyneuropathies
+∞
21.1
20
*
G60.8
ICD-10 Finland
Other hereditary and idiopathic neuropathies
+∞
20.0
19
*
G60
ICD-10 Finland
Hereditary and idiopathic neuropathy
+∞
15.8
15
*
R1250
NOMESCO Finland
Evaluation of functional capability
11.4
15.1
28
27
N28
ICPC
Limited function/disability (N)
14.5
14.5
24
18
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.9
13.0
44
103
N29
ICPC
Neurological sympt/complt other
13.2
12.9
22
18
3561A
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Peroneal muscular atrophy
+∞
12.6
12
*
L28
ICPC
Limited function/disability (L)
3.7
12.5
59
189
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.4
12.4
66
231
Q66.7
ICD-10 Finland
Pes cavus
67.9
11.7
13
*
NHL20
NOMESCO Finland
Myotomy or tenotomy of foot
+∞
11.5
11
*
NHL14
NOMESCO Finland
Shortening or lengthening of achilles tendon
125.0
11.5
12
*
SPAT1229
SPAT
Assessment of need for aid
4.8
11.5
39
92
N03AX12
ATC
gabapentin; oral
3.3
11.0
61
221
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
5.4
10.8
32
65
N94
ICPC
Peripheral neuritis/neuropathy
+∞
10.5
10
*
NHK40
NOMESCO Finland
Osteotomy or rotation osteotomy of II-V metatarsal or tarsal bone
13.8
10.3
17
13
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
7.2
10.2
24
36
NHL68
NOMESCO Finland
Tenodesis, shortening or lengthening of tendon of foot
17.5
10.0
15
9
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
4.4
9.2
33
82
Z50.1
ICD-10 Finland
Other physical therapy
4.6
8.5
29
69
Z3226
NOMESCO Finland
Physiotherapist
2.7
8.5
64
280
G61.0
ICD-10 Finland
Guillain-Barré syndrome
+∞
8.4
8
*
N03AX16
ATC
pregabalin; oral
2.4
8.1
79
395
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.1
7.9
45
165
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
46.3
7.8
9
*
G72.9
ICD-10 Finland
Myopathy, unspecified
46.3
7.8
9
*
NHG20
NOMESCO Finland
Fusion of talocrural joint
25.8
7.6
10
*
R4110
NOMESCO Finland
Physiotherapy
2.3
7.5
82
434
NAG62
NOMESCO Finland
Posterior fusion of lumbar spine with fixation, 2-3 vertebraea
9.8
7.4
14
15
35409
ICD-8 Finland
Polyneuritis and polyradiculitis, Unspecified
+∞
7.3
7
*
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
7.3
7
*
3569X
ICD-9 Finland
Hereditary and idiopathic peripheral neuropathy, Unspecified
+∞
7.3
7
*
L16
ICPC
Ankle symptom/complaint
3.1
7.2
40
143
N03AE01
ATC
clonazepam; systemic
4.4
6.9
24
59
L17
ICPC
Foot/toe symptom/complaint
2.2
6.9
83
455
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
6.8
27
75
M21.5
ICD-10 Finland
Acquired clawhand, clubhand, clawfoot and clubfoot
41.1
6.8
8
*
M20.4
ICD-10 Finland
Other hammer toe(s) (acquired)
5.3
6.6
19
38
NXL00
NOMESCO Finland
Biopsy of muscle
71.4
6.5
7
*
Q66.0
ICD-10 Finland
Talipes equinovarus
71.4
6.5
7
*
L84
ICD-10 Finland
Corns and callosities
5.4
6.4
18
35
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
7.3
6.3
14
20
R4120
NOMESCO Finland
Occupational therapy
3.8
6.3
25
70
G60.3
ICD-10 Finland
Idiopathic progressive neuropathy
+∞
6.3
6
*
G64
ICD-10 Finland
Other disorders of peripheral nervous system
+∞
6.3
6
*
NHL99
NOMESCO Finland
Other operation on muscle or tendon of ankle or foot
27.4
6.3
8
*
NHK30
NOMESCO Finland
Osteotomy or rotation osteotomy of first metatarsal or tarsal bone
6.5
6.3
15
24
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
3.7
6.0
25
73
Mortality – FinRegistry
↥Association
Association between endpoint G6_HEREMOSEN and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HEREMOSEN | 1.393 [1.1, 1.76] | 0.005 |
| Birth year | 0.994 [0.99, 1.0] | 0.177 |
During the follow-up period (1.1.1998 — 31.12.2019), 103 out of 825 females with G6_HEREMOSEN died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HEREMOSEN | 1.226 [1.01, 1.49] | 0.039 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 170 out of 979 males with G6_HEREMOSEN died.
Mortality risk
Mortality risk for people of age
years, who have G6_HEREMOSEN.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.144% | 0.227% |
| 5 | 0.742% | 1.433% |
| 10 | 1.911% | 3.496% |
| 15 | 3.983% | 6.669% |
| 20 | 6.914% | 11.055% |
Relationships between endpoints
↥Index endpoint: G6_HEREMOSEN – Hereditary motor and sensory neuropathy
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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