Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
gptkb:CMT1X
|
| gptkbp:associatedWith |
gptkb:GJB1
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:fullName |
gptkb:X-linked_Charcot-Marie-Tooth_disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMTX
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
X-linked
X-linked dominant |
| gptkbp:inheritanceRisk |
females may be carriers
males more severely affected |
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift |
| gptkbp:OMIM |
302800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:parent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:prevalence |
rare
|
| gptkbp:proteinAffected |
gptkb:connexin_32
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|