Neutral Lipid Storage Disease with Myopathy
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease lipid storage disease |
| gptkbp:affects |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:category |
metabolic myopathy
|
| gptkbp:containsGene |
gptkb:PNPLA2
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
2007
|
| gptkbp:hasAbnormalityOf |
lipid metabolism
|
| gptkbp:hasBiomarker |
lipid droplets in muscle fibers
triglyceride accumulation |
| 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 |
elevated creatine kinase
cardiomyopathy hepatomegaly progressive muscle weakness steatosis |
| gptkbp:synonym |
gptkb:NLSD_with_myopathy
NLSDM |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:NLSD_with_myopathy
|
| gptkbp:bfsLayer |
8
|