Familial hyperlipidemia type 5 (WP5112)

Homo sapiens

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.


Ulas Babayigit


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Homo sapiens


Rare Diseases


Disease Ontology

hyperlipoproteinemia type V familial hyperlipidemia

Pathway Ontology

disease pathway


Label Type Compact URI Comment
Chylomicron Metabolite wikidata:Q423126
Chylomicron remnant Metabolite wikidata:Q14890553
VLDL Metabolite chebi:39027
Cholesterol Metabolite chebi:16113
HDL Metabolite chebi:47775
LDL Metabolite chebi:47774
Lipoprotein Metabolite chebi:6495
IDL Metabolite chebi:132933
Cholesterol Metabolite chebi:16113
Triglyceride Metabolite chebi:17855
Phospholipid Metabolite chebi:16247
HDL Metabolite chebi:47775
SEL1L GeneProduct ensembl:ENSG00000071537
APOA2 GeneProduct ensembl:ENSG00000158874
LRP1 GeneProduct ensembl:ENSG00000123384
APOA4 GeneProduct ensembl:ENSG00000110244
CETP GeneProduct ensembl:ENSG00000087237
LIPC GeneProduct ensembl:ENSG00000166035
APOA1 GeneProduct ensembl:ENSG00000118137
LCAT GeneProduct ensembl:ENSG00000213398
LDLR GeneProduct ensembl:ENSG00000130164
PLTP GeneProduct ensembl:ENSG00000100979
LPL GeneProduct ensembl:ENSG00000175445
LMF1 GeneProduct ensembl:ENSG00000103227
GPIHBP1 GeneProduct ensembl:ENSG00000277494
GPIHBP1 GeneProduct ensembl:ENSG00000277494
LPL GeneProduct ensembl:ENSG00000175445
APOC2 GeneProduct ensembl:ENSG00000234906
APOA5 GeneProduct ensembl:ENSG00000110243
CETP GeneProduct ensembl:ENSG00000087237
CETP GeneProduct ensembl:ENSG00000087237
LPL GeneProduct ensembl:ENSG00000175445
APOC2 GeneProduct ensembl:ENSG00000234906
APOA5 GeneProduct ensembl:ENSG00000110243


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