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 |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
277 |
4. Check minimum number of eventsNone |
277 |
5. Include endpointsNone |
277 |
6. Filter based on genotype QC (FinnGen only) |
266 |
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
- 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 | 266 | 137 | 129 |
| Unadjusted period prevalence (%) | 0.06 | 0.05 | 0.06 |
| Median age at first event (years) | 48.44 | 45.34 | 51.74 |
-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
↥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: 2
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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