H00159 | |
H number | H00159 |
Name | Tangier disease |
Description | Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. |
Category | Inherited metabolic disorder DIS_PATHWAY hsa05417 Lipid and atherosclerosis |
Network | - |
Gene | ABCA1 [HSA:19] [KO:K05641] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C81.0 ICD-10: E78.6 MeSH: D013631 OMIM: 205400 |
Reference | PMID:16235041 AUTHORS Nofer JR, Remaley AT TITLE Tangier disease: still more questions than answers. JOURNAL Cell Mol Life Sci 62:2150-60 (2005) DOI:10.1007/s00018-005-5125-0 PMID:11927274 AUTHORS Oram JF TITLE Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. JOURNAL Trends Mol Med 8:168-73 (2002) DOI:10.1016/S1471-4914(02)02289-X PMID:11111099 AUTHORS Oram JF TITLE Tangier disease and ABCA1. JOURNAL Biochim Biophys Acta 1529:321-30 (2000) DOI:10.1016/S1388-1981(00)00157-8 |