Tangier disease

Term ID

DOID:1388

Synonyms

• familial alpha-lipoprotein deficiency
• familial high density lipoprotein deficiency
• familial hypoalphalipoproteinemia

Definition

A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. https://pubmed.ncbi.nlm.nih.gov/10431236/

References

• GARD:7731
• ICD10CM:E78.6
• MESH:D013631
• MIM:205400
• NCI:C85182
• SNOMEDCT_US_2023_03_01:190783007
• UMLS_CUI:C0039292

Ontology

Human Disease   ( DOID:1388 )