Charcot-Marie-Tooth disease, X-linked dominant, type 1
GPTKB entity
Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
gptkbp:affects |
peripheral nervous system
|
gptkbp:alternativeName |
gptkb:CMTX1
Charcot-Marie-Tooth neuropathy X type 1 |
gptkbp:firstDescribed |
1993
|
https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease, X-linked dominant, type 1
|
gptkbp:ICD-10_code |
gptkb:G60.0
|
gptkbp:inheritance |
X-linked dominant
|
gptkbp:mutationAssociatedWith |
gptkb:GJB1_gene
|
gptkbp:OMIM |
302800
|
gptkbp:onset |
childhood
|
gptkbp:prevalence |
rare
|
gptkbp:symptom |
muscle weakness
sensory loss foot deformities reduced reflexes |
gptkbp:treatment |
occupational therapy
physical therapy orthopedic devices |
gptkbp:bfsParent |
gptkb:NM_000218
|
gptkbp:bfsLayer |
7
|