Disease Information for LCAT deficiency

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Clinical Manifestations
Signs & Symptoms
Corneal infiltrate
Corneal opacity
Clinical Presentation & Variations
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Kidney disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Hepatic Enzymes Abnormal (Lab)
Large target cells/Blood smear (Lab)
Liver Functions Abnormal (Lab)
Renal function abnormalities (Lab)
Transaminase elevation (Lab)
Abnormal Lab Findings - Decreased
HDL (High density lipoprotein) (Lab)
Hematocrit (Lab)
Hemoglobin (Lab)
LDL (Low density lipoprotein) (Lab)
Lecithin-cholesterol acyltransferase activity (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
ALT (SGPT) (Alanine transferase) (Lab)
Aspartamine aminotransferase (SGOT, AST) (Lab)
AST (SGOT) (aspartamine transferase) (Lab)
Cholesterol (Lab)
Lecithin serum (Lab)
MCV/Mean Corpuscular Volume (Lab)
Phospholipids, serum (Lab)
Target cells (Lab)
Triglycerides (Lab)
URINE Protein (Albumin)
Diagnostic Test Results
Pathology
Bone Marrow/Sea-blue histiocytes/Pathology
BX/Spleen biopsy/Sea-blue histiocytes
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Cataract
Corneal opacity/gross clouding
Hepatic failure
Hypercholesterolemia
LCAT Deficiency
Proteinuria
Renal Failure Chronic
Proteinuria in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Abnormal lipoprotein molecules
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome 16q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Rapid Apo A-1 catabolism
Pathophysiology/Renal manifestations/involvement
Pathophysiology/Secondary Renal Failure
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Cholesterol ester deficiency disease, DEFIC LECITHIN ACYLTRANSFERASE, Deficiency Lecithin Acyltransferase, deficiency lecithin cholesterol acyltransferase, Fam lecithin choles acyltr def, familial cholesteryl ester deficiency, Familial lecithin cholesterol acyl transferase deficiency syndrome, Familial lecithin cholesterol acyltransferase deficiency, LCAT Lecithin cholesterol acyltransferase deficiency, LCAT DEFIC, LCAT DEFICIENCY, LCAT deficiency syndrome, LCAT Lecith choles acyltr def, Lecith chol acyltransferas def, LECITHIN ACYLTRANSFERASE DEFIC, Lecithin Acyltransferase Deficiency, LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFIC, Lecithin cholesterol acyltransferase deficiency, Lecithin cholesterol acyltransferase deficiency (disorder), Norum disease, Norum's disease, Phosphatidylch ster acyltr def, Phosphatidylcholine sterol acyltransferase deficiency, Phosphatidylcholine sterol acyltransferase deficiency (disorder), Synonym/Familial LCAT deficiency, Synonym/Lecithin-cholesterol acyltransferase def.
Definition
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External Links Related to LCAT deficiency
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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