Familial hyperlipidemia type 3 (WP5110)

Homo sapiens

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Familial hyperlipidemias are classified according to the Fredrickson classification. Type III is also known is familial dysbetalipoproteinemia. It is mainly linked to an increase of IDL. This is caused by APOE. APOE has multiple types, and is part of LDL, IDL, VLDL and chylomicrons. APOE also binds to LDLR, which is required for normal catabolism of triglycerid-rich proteins. Specifically APOE2 is linked with to IDL and because of this, mutations in APOE2 will lead to dysbetalipoproteinemia.

Authors

Ulas Babayigit , Friederike Ehrhart , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

hyperlipoproteinemia type III familial hyperlipidemia

Cell Type Ontology

hepatocyte

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
VLDL Metabolite chebi:39027
Cholesterol Metabolite chebi:16113
HDL Metabolite chebi:47775
LDL Metabolite chebi:47774
Lipoprotein Metabolite chebi:6495
IDL Metabolite chebi:132933
Triglyceride Metabolite chebi:17855
Phospholipid Metabolite chebi:16247
VLDLR GeneProduct ensembl:ENSG00000147852
APOA2 GeneProduct ensembl:ENSG00000158874
APOA4 GeneProduct ensembl:ENSG00000110244
APOE GeneProduct ensembl:ENSG00000130203
CETP GeneProduct ensembl:ENSG00000087237
LIPC GeneProduct ensembl:ENSG00000166035
APOA1 GeneProduct ensembl:ENSG00000118137
SCARB1 GeneProduct ensembl:ENSG00000073060
LCAT GeneProduct ensembl:ENSG00000213398
LPL GeneProduct ensembl:ENSG00000175445
LDLR GeneProduct ensembl:ENSG00000130164
PLTP GeneProduct ensembl:ENSG00000100979
LRP1 GeneProduct ensembl:ENSG00000123384

References

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