loading...| Preferred Name | Tangier disease | |
| Synonyms |
Defective adenosine triphosphate-binding cassette transporter A1 Tangier disease (disorder) |
|
| Definitions |
A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/723579009 |
|
| Active |
1 |
|
| altLabel |
Defective adenosine triphosphate-binding cassette transporter A1 Tangier disease (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000017005 |
|
| Cause of | ||
| CTV3ID |
XUv9J |
|
| cui |
C0039292 |
|
| definition |
A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170731 |
|
| notation |
723579009 |
|
| Occurs in | ||
| prefLabel |
Tangier disease |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~E78.6 447562003~MAPTARGET~E78.6 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XUv9J 447562003~MAPPRIORITY~1 447562003~MAPADVICE~ALWAYS E78.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS E78.6 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 |