abetalipoproteinemia

Summary
Synonym
  • familial hypobetalipoproteinemia
  • microsomal triglyceride transfer protein deficiency disease
Definition
A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
Super Class
autosomal recessive disease hypolipoproteinemia
External Links
Disease Ontology
DOID:1386
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1946 EFNA5 ephrin A5
2822 GPLD1 glycosylphosphatidylinositol specific phospholipase D1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3339 HSPG2 heparan sulfate proteoglycan 2
3931 LCAT lecithin-cholesterol acyltransferase
3956 LGALS1 galectin 1
4023 LPL lipoprotein lipase
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

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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