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MIRAGE
primary hypoalphalipoproteinemia 1

Summary
Synonym
  • familial HDL deficiency
  • familial hypoalphalipoproteinemia
Definition
A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
Super Class
hypolipoproteinemia
Disease Ontology
DOID:0080957
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
19 ABCA1 ATP binding cassette subfamily A member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95477 Phospholipid-transporting ATPase ABCA1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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