Hereditary Neuropathy with Liability to Pressure Palsies
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary neuropathy |
| gptkbp:alsoKnownAs |
HNPP
Tomaculous neuropathy |
| gptkbp:complication |
permanent nerve damage
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
1947
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary Neuropathy with Liability to Pressure Palsies
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PMP22_gene
|
| gptkbp:OMIM |
162500
|
| gptkbp:onset |
childhood
adolescence adulthood |
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:symptom |
muscle weakness
tingling loss of sensation recurrent numbness |
| gptkbp:treatment |
supportive care
physical therapy avoidance of nerve compression |
| gptkbp:bfsParent |
gptkb:PMP22_protein
gptkb:PMP22 |
| gptkbp:bfsLayer |
7
|