loading...| Preferred Name | Tangier Disease [Disease/Finding] | |
| Synonyms |
HDLDT1 Alpha High Density Lipoprotein Deficiency Disease High Density Lipoprotein Deficiency, Type 1 Tangier Disease High-Density Lipoprotein Deficiency, Tangier Type High-Density Lipoprotein Deficiency, Type I Cholesterol Thesaurismosis Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002898 |
|
| altLabel |
HDLDT1 Alpha High Density Lipoprotein Deficiency Disease High Density Lipoprotein Deficiency, Type 1 Tangier Disease High-Density Lipoprotein Deficiency, Tangier Type High-Density Lipoprotein Deficiency, Type I Cholesterol Thesaurismosis Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type |
|
| cui |
C0039292 |
|
| MESH 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. |
|
| MESH DUI |
D013631 |
|
| MeSH name |
Tangier Disease |
|
| MESH UI |
M0021031 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002898 |
|
| NUI |
N0000002898 |
|
| prefLabel |
Tangier Disease [Disease/Finding] |
|
| SNOMED CID |
15346004 |
|
| tui |
T047 |
|
| subClassOf |