Tangier disease

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Information
Disease name
Tangier disease
Disease ID
DOID:1388
Description
"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." [url:https\://pubmed.ncbi.nlm.nih.gov/10431236/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00005188 Completed Quantitative Genetic Analysis of Lipid Research Clinic Family Data July 1986 June 1991
NCT01763528 Completed Phase 3 High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese Women January 2011 August 2012
NCT01886482 Completed Phase 3 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children September 2011 September 2012
NCT01886495 Completed Phase 3 Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children September 2011 September 2012
NCT01782027 Suspended N/A Mendelian Reverse Cholesterol Transport Study October 2012 July 31, 2024
Disase is a (Disease Ontology)
DOID:1387
Cross Reference ID (Disease Ontology)
GARD:7731
Cross Reference ID (Disease Ontology)
ICD10CM:E78.6
Cross Reference ID (Disease Ontology)
MESH:D013631
Cross Reference ID (Disease Ontology)
MIM:205400
Cross Reference ID (Disease Ontology)
NCI:C85182
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:190783007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0039292
Exact Synonym (Disease Ontology)
familial alpha-lipoprotein deficiency
Exact Synonym (Disease Ontology)
familial high density lipoprotein deficiency
OrphaNumber from OrphaNet (Orphanet)
31150
MeSH unique ID (MeSH (Medical Subject Headings))
D013631