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
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
LabWAS
↥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