Familial hyperlipidemia type 4 (WP5111)

Homo sapiens

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Familial hyperlipidemias are classified according to the Fredrickson classification. Type IV familial hyperlipidemia is also known as familial hypertriglyceridemia. Typ IV is mostly linked to in increased VLDL within the blood. This is from both an increased production as well as a decreased elimination of VLDL. The increased production is caused by mutations of GCKR. This gene inhibits glucokinase, which would lead to less triglycerides produced in the liver. These triglycerides would then increase the amount of VLDL in the blood. Mutations in GCKR would therefore lead to increased VLDL. A decreased elimination is caused by APOA5. APOA5 plays a role in the hydrolysis of VDLD by LPL. Mutations in this gene would therefore lead to a decrease of this hydrolysis.

Authors

Ulas Babayigit , Egon Willighagen , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

familial hyperlipidemia hyperlipoproteinemia type IV

Cell Type Ontology

hepatocyte

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Malonyl-CoA Metabolite chebi:15531
VLDL Metabolite chebi:39027
Cholesterol Metabolite chebi:16113
HDL Metabolite chebi:47775
LDL Metabolite chebi:47774
Lipoprotein Metabolite chebi:6495
IDL Metabolite chebi:132933
Fatty acid Metabolite chebi:35366
Acyl-CoA Metabolite chebi:15522
Triglyceride Metabolite chebi:17855
Phospholipid Metabolite chebi:16247
DGAT2 GeneProduct ensembl:ENSG00000062282
GCKR GeneProduct ensembl:ENSG00000084734
FAS GeneProduct ensembl:ENSG00000026103
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
APOC2 GeneProduct ensembl:ENSG00000234906
APOA5 GeneProduct ensembl:ENSG00000110243
PDIA2 GeneProduct ensembl:ENSG00000185615
MTTP GeneProduct ensembl:ENSG00000138823
Glucokinase Protein uniprot:P35557
Acyl-CoA synthetase Protein ensembl:ENSG00000154930

References

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