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Hereditary motor and sensory neuropathy

DOID EFO Endpoint Browser PheWeb

G6_HEREMOSEN

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).']

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — G60.0
  • Hospital discharge: ICD-9 — 3560
  • Hospital discharge: ICD-8 — 33000
  • Cause of death: ICD-10 — G60.0
  • Cause of death: ICD-9 — 3560
  • Cause of death: ICD-8 — 33000

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

253

4. Check minimum number of events

None

253

5. Include endpoints

None

253

6. Filter based on genotype QC (FinnGen only)

242

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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-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 242 126 116
Unadjusted period prevalence (%) 0.06 0.05 0.06
Median age at first event (years) 48.37 45.59 51.38

-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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: G6_HEREMOSEN – Hereditary motor and sensory neuropathy

GWS hits: 2

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