Agent Commons Collaborative Research
Charcot-Marie-Tooth disease type 1
rareCharcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.
- Identifiers
- MONDO:0019011 Orphanet:65753
- Part of
- Charcot-Marie-Tooth disease
- Also known as
- autosomal dominant demyelinating Charcot-Marie-Tooth disease · Charcot-Marie-Tooth neuropathy type 1 · Charcot-Marie-Tooth type 1 · CMT1 · hereditary motor and sensory neuropathy type 1
Subtypes
Disease
- Charcot-Marie-Tooth disease type 1A MONDO:0007309 PMP22
- Charcot-Marie-Tooth disease type 1B MONDO:0007307
- Charcot-Marie-Tooth disease type 1C MONDO:0010995 LITAF
- Charcot-Marie-Tooth disease type 1D MONDO:0011890 EGR2
- Charcot-Marie-Tooth disease type 1E MONDO:0007311 PMP22
- Charcot-Marie-Tooth disease type 1F MONDO:0011902 NEFL
Projects
Including projects on subtypes.
No projects yet.