loading...| Preferred Name |
Tangier Disease |
| Synonyms |
Cholesterol Thesaurismoses |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D013631 |
| altLabel |
Cholesterol Thesaurismoses High Density Lipoprotein Deficiency, Type I Analphalipoproteinemia Tangier Hereditary Neuropathy Alpha High Density Lipoprotein Deficiency Disease Analphalipoproteinemias Tangier Disease Neuropathy HDLDT1 Thesaurismosis, Cholesterol High-Density Lipoprotein Deficiency, Tangier Type High Density Lipoprotein Deficiency, Type 1 A-alphalipoprotein Neuropathy High Density Lipoprotein Deficiency, Tangier Type A-alphalipoprotein Neuropathies Neuropathy, A-alphalipoprotein Neuropathy of Tangier Disease High-Density Lipoprotein Deficiency, Type I Cholesterol Thesaurismosis Neuropathies, A-alphalipoprotein Thesaurismoses, Cholesterol |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0751544 C0039292 |
| DC |
1 |
| 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. |
| DX |
19910101 |
| FX |
D012174 D008075 |
| HN |
1991(1978) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D008075 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D011129 http://purl.bioontology.org/ontology/MESH/D016878 http://purl.bioontology.org/ontology/MESH/D020364 http://purl.bioontology.org/ontology/MESH/D015417 http://purl.bioontology.org/ontology/MESH/D007863 |
| Machine permutation |
1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979 |
| MDA |
19770429 |
| MMR |
20130708 |
| MN |
C10.668.829.800.875 C18.452.584.500.875.330.750 C16.320.565.398.500.330.750 C18.452.648.398.500.330.750 |
| notation |
D013631 |
| prefLabel |
Tangier Disease |
| TERMUI |
T040047 T646294 T371760 T646293 T751280 T371759 T371762 T811914 T781722 T750580 T371761 T040043 T781721 |
| TH |
NLM (1978) NLM (2000) NLM (2010) NLM (2007) NLM (2012) ORD (2010) NLM (1995) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |