Statements (100)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:hereditary_spastic_paraplegia autosomal recessive disease muscular dystrophy |
| gptkbp:affects |
motor nerves
peripheral nerves sensory nerves |
| gptkbp:alsoKnownAs |
gptkb:CMT
|
| gptkbp:alternativeName |
Charcot-Marie-Tooth_disease_subtype
Charcot-Marie-Tooth_disease_type_4 |
| gptkbp:associatedWith |
gptkb:MPZ
gptkb:EGR2 gptkb:GDAP1 gptkb:GJB1 gptkb:MFN2 gptkb:PMP22 |
| gptkbp:category |
neurological disorder
rare disease |
| gptkbp:cause |
genetic disorder
|
| gptkbp:characterizedBy |
genetic disorder
peripheral neuropathy |
| gptkbp:class |
mode of inheritance
affected gene |
| gptkbp:diagnosedBy |
genetic testing
clinical examination nerve conduction studies |
| gptkbp:example |
gptkb:CMT1
gptkb:CMT2 gptkb:CMT3 gptkb:CMT4 gptkb:CMTX |
| gptkbp:firstDescribed |
1886
1993 |
| gptkbp:hasOrphanetID |
ORPHA:101081
|
| gptkbp:hasUMLS_CUI |
C1854302
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease
|
| gptkbp:ICD-10_code |
gptkb:G60.0
G60.1 |
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:MeSH_ID |
D020754
D002786 |
| gptkbp:mutationAssociatedWith |
gptkb:PRX
gptkb:FIG4 gptkb:MTMR2 gptkb:NDRG1 gptkb:SBF1 gptkb:SBF2 gptkb:SH3TC2 gptkb:EGR2 gptkb:SURF1 gptkb:GDAP1 FBLN5 |
| gptkbp:namedAfter |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
| gptkbp:OMIM |
118220
601596 |
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
1 in 2,500 people |
| gptkbp:prognosis |
progressive
not usually life-threatening |
| gptkbp:progression |
slowly progressive
|
| gptkbp:subclassOf |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:subspecies |
gptkb:CMT1
gptkb:CMT2 gptkb:CMT3 gptkb:CMT4 gptkb:CMTX CMT4A CMT4B1 CMT4B2 CMT4C CMT4D CMT4E CMT4F CMT4G CMT4H CMT4J CMT4K |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss areflexia foot drop hammertoes high arches loss of sensation in feet and legs foot deformities |
| gptkbp:treatment |
orthopedic surgery
occupational therapy physical therapy pain management orthopedic devices surgical intervention |
| gptkbp:bfsParent |
gptkb:Jean-Martin_Charcot
|
| gptkbp:bfsLayer |
5
|