| Descriptor English: | Lecithin Cholesterol Acyltransferase Deficiency | ||||||
| Descriptor Spanish: |
Deficiencia de la Lecitina Colesterol Aciltransferasa
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| Descriptor Portuguese: | Deficiência da Lecitina Colesterol Aciltransferase | ||||||
| Descriptor French: | Déficit en lécithine-cholestérol-acyl-transférase | ||||||
| Entry term(s): |
Acyltransferase Deficiency, Lecithin:Cholesterol Corneal Dystrophy, Dyslipoproteinemic Deficiency, LCAT Deficiency, alpha-LCAT Dyslipoproteinemic Corneal Dystrophy Fish Eye Disease Fish-Eye Disease LCAT Deficiency LCATA Deficiencies LCATA Deficiency Lecithin:Cholesterol Acyltransferase Deficiency Norum Disease alpha LCAT Deficiency alpha-LCAT Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency |
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| Tree number(s): |
C16.320.565.398.500.330.500 C18.452.584.500.875.330.500 C18.452.584.563.500.330.500 C18.452.648.398.500.330.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D007863 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Acyltransferases (1966-1977) Lecithin Acyltransferase/DF (1975-1977) Lipid Metabolism, Inborn Errors (1966-1977) Lipoproteins (1966-1977) |
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| Public MeSH Note: | 2017(1978); see LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 |
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| History Note: | 2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 |
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| DeCS ID: | 8041 | ||||||
| Unique ID: | D007863 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1977/04/29 | ||||||
| Revision Date: | 2016/05/31 |
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Lecithin Cholesterol Acyltransferase Deficiency
- Preferred
Fish-Eye Disease
- Narrower
| Concept UI |
M0012277 |
| Scope note | 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. |
| Preferred term | Lecithin Cholesterol Acyltransferase Deficiency |
| Entry term(s) |
Acyltransferase Deficiency, Lecithin:Cholesterol Deficiency, LCAT Deficiency, alpha-LCAT LCAT Deficiency LCATA Deficiencies LCATA Deficiency Lecithin:Cholesterol Acyltransferase Deficiency Norum Disease alpha LCAT Deficiency alpha-LCAT Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency |
| Concept UI |
M0487136 |
| Preferred term | Fish-Eye Disease |
| Entry term(s) |
Corneal Dystrophy, Dyslipoproteinemic Dyslipoproteinemic Corneal Dystrophy Fish Eye Disease |
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