Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:Charcot-Marie-Tooth_disease |
| gptkbp:abbreviation |
gptkb:CMT2A
|
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
CMT type 2A
Charcot-Marie-Tooth neuropathy type 2A |
| gptkbp:associatedWith |
gptkb:MFN2
|
| gptkbp:causedBy |
mutation in MFN2 gene
|
| gptkbp:fullName |
gptkb:Charcot-Marie-Tooth_disease_type_2A
|
| gptkbp:hasOrphanetID |
ORPHA:101081
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2A
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
dominant
autosomal dominant |
| gptkbp:OMIM |
118210
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
gptkb:Charcot-Marie-Tooth_disease_type_2 |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss areflexia foot deformities distal limb weakness gait difficulties |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:MFN2
|
| gptkbp:bfsLayer |
7
|