Charcot-Marie-Tooth disease type 2B
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
rare disease muscular dystrophy |
| gptkbp:alsoKnownAs |
CMT2B
Hereditary motor and sensory neuropathy type 2B |
| gptkbp:associatedWith |
recurrent infections
ulcerations |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2B
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RAB7A_gene
|
| gptkbp:OMIM |
600882
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
very rare
|
| gptkbp:subclassOf |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| gptkbp:symptom |
sensory loss
foot deformities distal muscle weakness |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:Rab7
|
| gptkbp:bfsLayer |
7
|