X-linked Charcot-Marie-Tooth disease
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
genetic disorder muscular dystrophy |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
gptkb:CMTX
Charcot-Marie-Tooth neuropathy X-linked |
| gptkbp:discoveredBy |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked Charcot-Marie-Tooth disease
|
| gptkbp:inheritance |
X-linked recessive
X-linked dominant |
| gptkbp:mutationAssociatedWith |
gptkb:GJB1_gene
PRPS1 gene |
| gptkbp:OMIM |
302800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss areflexia foot deformities |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:CMTX
|
| gptkbp:bfsLayer |
7
|