Familial hyperlipidemia type 5 (Homo sapiens)

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77877VLDL increaseChylomicron increaseHyperlipoproteinemia type VFamilial hyperlipidemiaType V7775, 151111111xLiverTransportChylomicronChylomicron remnantSEL1L25, 9, 152, 13, 149622, 10, 12, 1394, 794, 6954, 7VLDLAPOA2CholesterolHDLLDLLRP1APOA4LipoproteinIDL8CETPLIPCAPOA1LCATLDLRPLTPCholesterolLPLLMF1GPIHBP1GPIHBP1LPLAPOC2APOA5CETPBindingConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendx9CETP95, 9, 15Triglyceride5, 9, 15PhospholipidLPLAPOC2APOA5HDL8


Familial hyperlipidemias are classified according to the Fredrickson classification. Type V familial hyperlipidemia is also known as combined hyperlipidemia as it look like a combination of type I and type IV. In type V familial hyperlipidemia there is an increase in both chylomicrons and VLDL. Both of the lipoproteins are hydrolyzed by LPL. However, this is mainly caused by mutations in APOA5. APOA5 plays a role in stablizing the APOC2-LPL complex, which is needed to hydrolize VLDL and chylomicrons. Mutations in APOA5 would therefore lead to instability of this complex and less hydrolysis. Some cases have also shown a decrease in LPL itself, which was mostly linked to the VLDL increase.

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119153view11:02, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
119152view11:01, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
118703view07:34, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type V' added !
118701view07:33, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118500view09:12, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118499view09:11, 28 May 2021UlasBabayigitOntology Term : 'DOID:13809' removed !
118496view09:10, 28 May 2021UlasBabayigitOntology Term : 'familial combined hyperlipidemia' added !
118495view09:08, 28 May 2021UlasBabayigitNew pathway

External references


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NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Chylomicron MetaboliteQ423126 (Wikidata)
Chylomicron remnant MetaboliteQ14890553 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
HDLMetaboliteCHEBI:47775 (ChEBI)
Hyperlipoproteinemia type VQ18554151 (Wikidata)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LMF1GeneProductENSG00000103227 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SEL1LGeneProductENSG00000071537 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

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