loading...| Preferred Name |
Lecithin Cholesterol Acyltransferase Deficiency |
| Synonyms |
alpha LCAT Deficiency |
| 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 |
alpha LCAT Deficiency Deficiency, alpha-LCAT Fish-Eye Disease Norum Disease LCATA Deficiency alpha-LCAT Deficiency Dyslipoproteinemic Corneal Dystrophy Acyltransferase Deficiency, Lecithin:Cholesterol alpha-Lecithin-Cholesterol Acyltransferase Deficiency Fish Eye Disease alpha-Lecithin:Cholesterol Acyltransferase Deficiency Corneal Dystrophy, Dyslipoproteinemic LCAT Deficiency LCATA Deficiencies Deficiency, LCAT Lecithin:Cholesterol Acyltransferase Deficiency |
| 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 |
C0023195 C0342895 |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB | |
| Machine permutation |
2017(1978); see LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 |
| MDA |
19770429 |
| MMR |
20160531 |
| MN |
C16.320.565.398.500.330.500 C18.452.584.500.875.330.500 C18.452.648.398.500.330.500 |
| notation |
D007863 |
| prefLabel |
Lecithin Cholesterol Acyltransferase Deficiency |
| TERMUI |
T646312 T815866 T646323 T815867 T815865 T646325 T646313 T646322 T815868 T646324 |
| TH |
NLM (2013) NLM (2007) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |