familial HDL deficiency

GPTKB entity

Statements (21)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affects high-density lipoprotein (HDL) levels
gptkbp:associatedWith increased risk of cardiovascular disease
gptkbp:cause low HDL cholesterol
gptkbp:diagnosedBy gptkb:lipid_panel
https://www.w3.org/2000/01/rdf-schema#label familial HDL deficiency
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:MeSH_ID D006220
gptkbp:mutationAssociatedWith gptkb:APOA1_gene
gptkb:ABCA1_gene
LCAT gene
gptkbp:OMIM 604091
gptkbp:symptom xanthomas
premature coronary artery disease
gptkbp:treatment niacin
lifestyle modification
statins
gptkbp:bfsParent gptkb:APOA1
gptkbp:bfsLayer 7