familial combined hyperlipidemia

Summary
Synonym
  • familial multiple lipoprotein-type hyperlipidemia
  • hyperbetalipoproteinemia with prebetalipoproteinemia
  • mixed hyperlipidaemia
  • type IIb hyperlipoproteinemia
Super Class
familial hyperlipidemia
Disease Ontology
DOID:13809
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
118 ADD1 adducin 1
345 APOC3 apolipoprotein C3
348 APOE apolipoprotein E
3172 HNF4A hepatocyte nuclear factor 4 alpha
3990 LIPC lipase C, hepatic type
4023 LPL lipoprotein lipase
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0003077 Hyperlipidemia
HP:0001114 Xanthelasma
HP:0003141 Increased LDL cholesterol concentration
HP:0000006 Autosomal dominant inheritance
HP:0003124 Hypercholesterolemia
HP:0003362 Increased VLDL cholesterol concentration
HP:0001658 Myocardial infarction
Displaying 1 entry
Gene ID Gene Symbol Description
4023 LPL lipoprotein lipase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025