Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
|
| gptkbp:alsoKnownAs |
gptkb:Familial_Chylomicronemia_Syndrome
gptkb:Type_I_hyperlipoproteinemia |
| gptkbp:causedBy |
genetic mutations
APOC2 gene mutations LPL gene mutations |
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:fullName |
gptkb:Familial_Chylomicronemia_Syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
FCS syndrome
|
| gptkbp:ICD-10_code |
E78.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
abdominal pain
hepatosplenomegaly eruptive xanthomas recurrent pancreatitis severe hypertriglyceridemia |
| gptkbp:treatment |
gptkb:volanesorsen
omega-3 fatty acids dietary fat restriction fibrate medications |
| gptkbp:bfsParent |
gptkb:Costello_syndrome
|
| gptkbp:bfsLayer |
6
|