Charcot-Marie-Tooth disease X-linked type 1
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
gptkb:CMTX1
Charcot-Marie-Tooth neuropathy X-linked 1 |
| gptkbp:discoveredBy |
Kenneth Fischbeck
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease X-linked 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 atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
physical therapy
orthopedic devices |
| gptkbp:bfsParent |
gptkb:GJB1
|
| gptkbp:bfsLayer |
7
|