loading...| Preferred Name | Tangier Disease | |
| Synonyms |
HDLDT1 Alpha High Density Lipoprotein Deficiency Disease Analphalipoproteinemias Thesaurismosis, Cholesterol High Density Lipoprotein Deficiency, Type 1 Neuropathies, A-alphalipoprotein Thesaurismoses, Cholesterol High-Density Lipoprotein Deficiency, Tangier Type Tangier Disease Neuropathy High-Density Lipoprotein Deficiency, Type I Neuropathy of Tangier Disease A-alphalipoprotein Neuropathy Neuropathy, A-alphalipoprotein Tangier Hereditary Neuropathy Cholesterol Thesaurismosis High Density Lipoprotein Deficiency, Type I Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type Cholesterol Thesaurismoses A-alphalipoprotein Neuropathies |
|
| 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 |
HDLDT1 Alpha High Density Lipoprotein Deficiency Disease Analphalipoproteinemias Thesaurismosis, Cholesterol High Density Lipoprotein Deficiency, Type 1 Neuropathies, A-alphalipoprotein Thesaurismoses, Cholesterol High-Density Lipoprotein Deficiency, Tangier Type Tangier Disease Neuropathy High-Density Lipoprotein Deficiency, Type I Neuropathy of Tangier Disease A-alphalipoprotein Neuropathy Neuropathy, A-alphalipoprotein Tangier Hereditary Neuropathy Cholesterol Thesaurismosis High Density Lipoprotein Deficiency, Type I Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type Cholesterol Thesaurismoses A-alphalipoprotein Neuropathies |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D008075 |
|
| Machine permutation |
1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979 |
|
| MDA |
19770429 |
|
| MMR |
20210630 |
|
| MN |
C10.668.829.800.875 C18.452.584.500.875.330.750 C18.452.584.563.500.330.750 C16.320.565.398.500.330.750 C18.452.648.398.500.330.750 |
|
| notation |
D013631 |
|
| prefLabel |
Tangier Disease |
|
| TERMUI |
T371762 T646293 T781721 T371761 T371759 T040043 T750580 T040047 T646294 T811914 T371760 T751280 T781722 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1995) NLM (2012) NLM (1978) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |