familial chylomicronemia syndrome
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
Fredrickson type I hyperlipoproteinemia
type I hyperlipoproteinemia |
| gptkbp:causedBy |
mutations in APOA5 gene
mutations in APOC2 gene mutations in GPIHBP1 gene mutations in LMF1 gene mutations in LPL gene |
| gptkbp:characterizedBy |
hepatosplenomegaly
chylomicronemia eruptive xanthomas recurrent pancreatitis extremely high triglyceride levels lipemia retinalis |
| gptkbp:diagnosedBy |
genetic testing
fasting lipid profile |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial chylomicronemia syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006949
|
| gptkbp:OMIM |
238600
|
| gptkbp:prevalence |
1 in 1,000,000
|
| gptkbp:riskFactor |
acute pancreatitis
|
| gptkbp:treatment |
gptkb:volanesorsen
omega-3 fatty acids very low-fat diet fibrates (limited efficacy) |
| gptkbp:bfsParent |
gptkb:apolipoprotein_C-II
gptkb:lipoprotein_lipase |
| gptkbp:bfsLayer |
6
|