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.
Authors
Ulas BabayigitActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
hyperlipoproteinemia type V familial hyperlipidemiaPathway 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 |
References
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