SPARQL | HTML5 RDFa and Microdata document
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    • http://www.w3.org/1999/02/22-rdf-syntax-ns#type
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    • http://vocabularies.wikipathways.org/wp#cellTypeOntologyTag
      • http://purl.obolibrary.org/obo/CL_0000182
    • http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
      • http://purl.obolibrary.org/obo/DOID_1168
      • http://purl.obolibrary.org/obo/DOID_13809
      • http://purl.obolibrary.org/obo/DOID_13810
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      • Homo sapiens
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      • WikiPathways
    • http://purl.org/dc/elements/1.1/title
      • Familial hyperlipidemia type 2
    • http://purl.org/dc/terms/description
      • Familial hyperlipidemias are classified according to the Fredrickson classification. Type II familial hyperlipidemia is divided into 2 subtypes, IIa and IIb. IIa is linked with mutations in the LDL receptor (LDLR) or genes that regulate the LDL uptake. Therefore, we see an increase of LDL with type IIa familial hyperlipidemia. IIa can be subdived into 4 different types. FHCL1 is caused by direct mutations of the LDLR. This FCHL1 has different phenotypes linked to it which are cause by mutations in APOA2, EPHX2 and GHR. FCHL2 is caused by mutations in APOB, which acts as a ligand for the LDLR. FHCL3 is caused by mutations in PCSK9 which binds to LDLR to inhibit LDL uptake. Lastly, FHCL4 is linked with mutations in LDLRAP1, which stimulates receptor binding. Typ IIB familial hyperlipidemia is known as familial combined hyperlipidemia. This type has shown an increase of both LDL and VLDL. Type IIB can be divided into 3 subtypes. FCHL1 is caused by mutations in USF1 which plays a role in cellular transcription. However, it is unclear how exactly this is linked to the lipid metabolism. HYPLIP2 is caused by mutations in APOB, which is linked to the reduced LDL. APOB is also a primmary apolipoprotein for VLDL. Lastly, FCHL3 is linked to LPL mutations, which is mostly linnked to hydrolizing the VLDL into IDL.
    • http://purl.org/dc/terms/identifier
      • WP5109
    • http://purl.org/spar/cito/cites
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      • https://identifiers.org/pubmed/23055695
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      • https://identifiers.org/pubmed/25110901
      • https://identifiers.org/pubmed/22461740
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      • https://identifiers.org/pubmed/26247089
      • https://identifiers.org/pubmed/12910492
      • https://identifiers.org/pubmed/27809445