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
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
19 ABCA1 ATP binding cassette subfamily A member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11303 Abca1 ATP-binding cassette, sub-family A member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
171782 abt-2 ABC transporter domain-containing protein

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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: December 9, 2024