loading...| Preferred Name | Lecithin Cholesterol Acyltransferase Deficiency | |
| Synonyms |
Lecithin:Cholesterol Acyltransferase Deficiency Dyslipoproteinemic Corneal Dystrophy Deficiency, LCAT Fish-Eye Disease LCATA Deficiency LCAT Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency alpha LCAT Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency Corneal Dystrophy, Dyslipoproteinemic Norum Disease alpha-LCAT Deficiency Acyltransferase Deficiency, Lecithin:Cholesterol Fish Eye Disease LCATA Deficiencies Deficiency, alpha-LCAT |
|
| Definitions |
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007863 |
|
| altLabel |
Lecithin:Cholesterol Acyltransferase Deficiency Dyslipoproteinemic Corneal Dystrophy Deficiency, LCAT Fish-Eye Disease LCATA Deficiency LCAT Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency alpha LCAT Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency Corneal Dystrophy, Dyslipoproteinemic Norum Disease alpha-LCAT Deficiency Acyltransferase Deficiency, Lecithin:Cholesterol Fish Eye Disease LCATA Deficiencies Deficiency, alpha-LCAT |
|
| 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 |
C0342895 C0023195 |
|
| DC |
1 |
|
| definition |
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. |
|
| DX |
19910101 |
|
| HN |
2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 |
|
| 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 |
|
| Machine permutation |
2017; see LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 |
|
| MDA |
19770429 |
|
| MMR |
20210630 |
|
| MN |
C18.452.648.398.500.330.500 C18.452.584.500.875.330.500 C18.452.584.563.500.330.500 C16.320.565.398.500.330.500 |
|
| notation |
D007863 |
|
| prefLabel |
Lecithin Cholesterol Acyltransferase Deficiency |
|
| TERMUI |
T815866 T646322 T646325 T646312 T815865 T815868 T815867 T646313 T646323 T646324 |
|
| TH |
OMIM (2013) NLM (2013) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |