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Term:Tangier disease
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Accession:DOID:1388 term browser browse the term
Definition:An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Synonyms:exact_synonym: A-alphalipoprotein Neuropathies;   A-alphalipoprotein Neuropathy;   Alpha High Density Lipoprotein Deficiency Disease;   Analphalipoproteinemias;   Cholesterol Thesaurismoses;   Cholesterol Thesaurismosis;   HDLDT1;   High Density Lipoprotein Deficiency, Tangier Type;   High Density Lipoprotein Deficiency, Type 1;   High Density Lipoprotein Deficiency, Type I;   Neuropathy of Tangier Disease;   TGD;   Tangier Disease Neuropathy;   Tangier hereditary neuropathy;   analphalipoproteinemia;   familial alpha-lipoprotein deficiency;   familial high density lipoprotein deficiency;   familial hypoalphalipoproteinemia
 primary_id: MESH:D013631
 alt_id: OMIM:205400;   RDO:0000224
 xref: GARD:7731;   NCI:C85182
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Tangier disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca1 ATP binding cassette subfamily A member 1 JBrowse link 5 69,857,717 69,983,042 RGD:1600951
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        peripheral nervous system disease 2171
          polyneuropathy 89
            Tangier disease 2
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            lipid metabolism disorder 751
              Dyslipidemias 283
                hypolipoproteinemia 15
                  Hypoalphalipoproteinemias 4
                    Tangier disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.