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Charcot-Marie-Tooth disease type 3

Disease Summary
Associated Targets (6)
Tbio

6


GARD Rare
Uniprot Description A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Disease Ontology Description A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
Mondo Term and Equivalent IDs
MONDO:0007790:  Charcot-Marie-Tooth disease type 3
GARD:0009204: 
NCIT:C133087: 
Orphanet:64748: 
SCTID:111499002: 
UMLS:C0011195: