loading...| Preferred Name | Familial lecithin cholesterol acyltransferase deficiency | |
| Synonyms |
Familial lecithin cholesterol acyltransferase deficiency (disorder) Norum disease Complete LCAT deficiency Complete LCAT (lecithin-cholesterol acyltransferase) deficiency |
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| Definitions |
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1264565005 |
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| Active |
1 |
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| altLabel |
Familial lecithin cholesterol acyltransferase deficiency (disorder) Norum disease Complete LCAT deficiency Complete LCAT (lecithin-cholesterol acyltransferase) deficiency |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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| CTV3ID |
XVKPb |
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| cui |
C0023195 |
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| definition |
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20230228 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| interprets | ||
| notation |
1264565005 |
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| prefLabel |
Familial lecithin cholesterol acyltransferase deficiency |
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| 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 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 900000000000497000~MAPTARGET~XVKPb 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |