hyperalphalipoproteinemia 1

Summary
Synonym
  • HALP1
Definition
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
Super Class
autosomal dominant disease cholesterol-ester transfer protein deficiency
External Links
Disease Ontology
DOID:0111369
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2590 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
3931 LCAT lecithin-cholesterol acyltransferase
3990 LIPC lipase C, hepatic type
4023 LPL lipoprotein lipase
9388 LIPG lipase G, endothelial type

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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: August 19, 2024