inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD)
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
gptkb:bone
gptkb:skeletal_muscle brain |
| gptkbp:alsoKnownAs |
IBMPFD
|
| gptkbp:associatedWith |
protein aggregation
ubiquitin-positive inclusions |
| gptkbp:firstDescribed |
2000
|
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:VCP_gene
|
| gptkbp:OMIM |
167320
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
<1 in 1,000,000
|
| gptkbp:symptom |
muscle weakness
frontotemporal dementia Paget disease of bone |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:valosin-containing_protein_(VCP)
gptkb:p97 |
| gptkbp:bfsLayer |
8
|