Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease |
| gptkbp:abbreviation |
gptkb:MSP
|
| gptkbp:affects |
gptkb:nervous_system
muscular system skeletal system |
| gptkbp:category |
rare disease
|
| gptkbp:causedBy |
mutation in HNRNPA1 gene
mutation in HNRNPA2B1 gene mutation in MATR3 gene mutation in SQSTM1 gene mutation in VCP gene |
| gptkbp:firstDescribed |
2004
|
| gptkbp:hasFeature |
protein aggregation
inclusion bodies |
| https://www.w3.org/2000/01/rdf-schema#label |
multisystem proteinopathy
|
| gptkbp:ICD-10_code |
G71.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
167320
|
| gptkbp:symptom |
motor neuron disease
muscle weakness frontotemporal dementia Paget disease of bone |
| gptkbp:treatment |
supportive care
physical therapy bisphosphonates (for Paget disease) |
| gptkbp:bfsParent |
gptkb:hnRNPA1
gptkb:p97/VCP gptkb:HNRNPA1 gptkb:HNRNPA2B1 |
| gptkbp:bfsLayer |
7
|