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 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
5320 PLA2G2A phospholipase A2 group IIA
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
7941 PLA2G7 phospholipase A2 group VII
8399 PLA2G10 phospholipase A2 group X
8809 IL18R1 interleukin 18 receptor 1

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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