KEGG   DISEASE: Tangier disease
Entry
H00159                      Disease                                
Name
Tangier disease
  Supergrp
Hypoalphalipoproteinemia [DS:H00930]
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00159  Tangier disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C81  Hypolipoproteinaemia
     H00159  Tangier disease
Pathway
hsa05417  Lipid and atherosclerosis
Related
pathway
hsa02010  ABC transporters
hsa04979  Cholesterol metabolism
hsa04975  Fat digestion and absorption
Gene
ABCA1 [HSA:19] [KO:K05641]
Other DBs
ICD-11: 5C81.0
ICD-10: E78.6
MeSH: D013631
OMIM: 205400
Reference
  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
Reference
  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
Reference
  Authors
Oram JF
  Title
Tangier disease and ABCA1.
  Journal
Biochim Biophys Acta 1529:321-30 (2000)
DOI:10.1016/S1388-1981(00)00157-8
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