neutral lipid storage disease with myopathy
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular disease |
| gptkbp:affects |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:associatedWith |
cardiomyopathy
hepatomegaly |
| gptkbp:characterizedBy |
elevated creatine kinase
progressive muscle weakness lipid accumulation in muscle fibers |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
2008
|
| gptkbp:hasOrphanetID |
ORPHA:98950
|
| https://www.w3.org/2000/01/rdf-schema#label |
neutral lipid storage disease with myopathy
|
| gptkbp:ICD-10_code |
E88.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:PNPLA2_gene
|
| gptkbp:OMIM |
610717
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
exercise intolerance
muscle pain muscle atrophy dysphagia respiratory insufficiency |
| gptkbp:synonym |
gptkb:NLSD_with_myopathy
NLSDM |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:LIPE
|
| gptkbp:bfsLayer |
6
|