FLD
MCID: FML330
MIFTS: 33

Familial Lcat Deficiency (FLD)

Categories: Rare diseases

Aliases & Classifications for Familial Lcat Deficiency

MalaCards integrated aliases for Familial Lcat Deficiency:

Name: Familial Lcat Deficiency 20 43
Lecithin Acyltransferase Deficiency 43 70
Complete Lcat Deficiency 20 43
Norum Disease 20 43
Fld 20 43
Familial Lecithin-Cholesterol Acyltransferase Deficiency 43
Lecithin:cholesterol Acyltransferase Deficiency 43
Lcat Deficiency 43
Norum's Disease 43

Classifications:



External Ids:

UMLS 70 C0023195

Summaries for Familial Lcat Deficiency

MedlinePlus Genetics : 43 Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).

MalaCards based summary : Familial Lcat Deficiency, also known as lecithin acyltransferase deficiency, is related to sea-blue histiocyte disease and lecithin:cholesterol acyltransferase deficiency. An important gene associated with Familial Lcat Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drug Lecithin has been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and spleen, and related phenotype is liver/biliary system.

GARD : 20 Familial LCAT deficiency is a genetic disorder that affects the body's ability to process (metabolize) cholesterol. It is characterized by cloudiness of the clear front surface of the eye ( corneal opacities), a shortage of red blood cells ( hemolytic anemia ), and kidney failure. Symptoms usually appear in adulthood and may also include enlargement of the liver ( hepatomegaly ), spleen ( splenomegaly ), and lymph nodes (lymphadenopathy), as well as an accumulation of fat in the artery walls ( atherosclerosis ). Familial LCAT deficiency is one of two types of LCAT deficiency; the other type of LCAT deficiency is fish-eye disease. Both types of LCAT deficiency are caused by mutations in the LCAT gene and are inherited in an autosomal recessive manner. Although there is no specific treatment or cure for familial LCAT deficiency, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

Related Diseases for Familial Lcat Deficiency

Diseases related to Familial Lcat Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 sea-blue histiocyte disease 31.7 LCAT APOE
2 lecithin:cholesterol acyltransferase deficiency 31.5 LCAT APOE APOA2 APOA1
3 fish-eye disease 31.3 LCAT APOA2 APOA1
4 membranoproliferative glomerulonephritis 30.3 LCAT ALB
5 defective apolipoprotein b-100 30.1 LCAT APOE
6 cystinosis 29.8 LCAT ALB
7 amyloidosis aa 29.7 LCAT APOA1
8 hypoalphalipoproteinemia 29.6 LCAT APOA2 APOA1
9 hypobetalipoproteinemia, familial, 1 29.6 LCAT APOE APOA1
10 hypertriglyceridemia, familial 29.5 APOE APOA2 APOA1
11 eye disease 29.5 LCAT APOA2 APOA1 ALB
12 kidney disease 29.4 LCAT APOE APOA1 ALB
13 chronic kidney disease 29.3 LCAT APOE APOA1 ALB
14 gilbert syndrome 29.3 APOA1 ALB
15 hypercholesterolemia, familial, 1 29.2 LCAT APOE APOA2 APOA1
16 lipid metabolism disorder 29.0 LCAT APOE APOA2 APOA1
17 non-alcoholic fatty liver disease 29.0 APOE APOA1 ALB
18 nephrotic syndrome 28.9 LCAT APOE APOA1 ALB
19 hyperlipoproteinemia, type i 28.9 LCAT APOE APOA2 APOA1
20 vascular disease 28.8 LCAT APOE APOA1 ALB
21 amyloidosis 28.8 APOE APOA2 APOA1 ALB
22 atherosclerosis susceptibility 28.6 LCAT APOE APOA2 APOA1 ALB
23 tangier disease 28.4 LCAT APOE APOA2 APOA1 ALB
24 schnyder corneal dystrophy 11.1
25 fatty liver disease 11.0
26 fazio-londe disease 10.9
27 proteinuria, chronic benign 10.3
28 deficiency anemia 10.2
29 cholestasis 10.2
30 extrahepatic cholestasis 10.2
31 bilirubin metabolic disorder 10.2
32 c3 glomerulopathy 10.2
33 dense deposit disease 10.2
34 sarcoidosis 1 10.1
35 schistosoma mansoni infection, susceptibility/ 10.1
36 huntington disease-like 2 10.1
37 body mass index quantitative trait locus 1 10.1
38 helix syndrome 10.1
39 rapidly involuting congenital hemangioma 10.1
40 primary biliary cholangitis 10.1
41 alcoholic hepatitis 10.1
42 hepatitis a 10.1
43 schistosomiasis 10.1
44 glomerulonephritis 10.1
45 liver disease 10.1
46 liver cirrhosis 10.1
47 acute erythroid leukemia 10.1
48 kwashiorkor 10.0 LCAT ALB
49 c syndrome 10.0 APOE ALB
50 huntington disease-like 3 10.0

Graphical network of the top 20 diseases related to Familial Lcat Deficiency:



Diseases related to Familial Lcat Deficiency

Symptoms & Phenotypes for Familial Lcat Deficiency

MGI Mouse Phenotypes related to Familial Lcat Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 ALB APOA1 APOE LCAT

Drugs & Therapeutics for Familial Lcat Deficiency

Drugs for Familial Lcat Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lecithin Experimental 8002-43-5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Analysis of Samples Collected From a Subject Who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT]) Completed NCT04737720

Search NIH Clinical Center for Familial Lcat Deficiency

Genetic Tests for Familial Lcat Deficiency

Anatomical Context for Familial Lcat Deficiency

MalaCards organs/tissues related to Familial Lcat Deficiency:

40
Kidney, Eye, Spleen, Endothelial

Publications for Familial Lcat Deficiency

Articles related to Familial Lcat Deficiency:

(show top 50) (show all 109)
# Title Authors PMID Year
1
CER-001 ameliorates lipid profile and kidney disease in a mouse model of familial LCAT deficiency. 61
33309714 2021
2
Activation of Naturally Occurring Lecithin:Cholesterol Acyltransferase Mutants by a Novel Activator Compound. 61
32980814 2020
3
Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort. 61
32998975 2020
4
Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort. 61
33531254 2020
5
Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort. 61
33455720 2020
6
Esterification of 4β-hydroxycholesterol and other oxysterols in human plasma occurs independently of LCAT. 61
32561542 2020
7
Lecithin:cholesterol acyltransferase: symposium on 50 years of biomedical research from its discovery to latest findings. 61
32482717 2020
8
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020. 61
32618730 2020
9
Familial LCAT deficiency and cardiovascular disease: the game is not over. A case of dramatic multivessel atherosclerosis. 61
32486613 2020
10
Novel lecithin: cholesterol acyltransferase-based therapeutic approaches. 61
32073411 2020
11
Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency. 61
31684177 2019
12
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred. 61
31103331 2019
13
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 61
31164121 2019
14
Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo. 61
33487373 2019
15
Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo. 61
30808683 2019
16
Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease. 61
30394912 2019
17
LCAT Enzyme Replacement Therapy Reduces LpX and Improves Kidney Function in a Mouse Model of Familial LCAT Deficiency. 61
30563940 2019
18
Finding a very rare mutation in non-Caucasian LCAT patients from Southwest Asia for the first time. 61
30506915 2018
19
Molecular basis for activation of lecithin:cholesterol acyltransferase by a compound that increases HDL cholesterol. 61
30479275 2018
20
Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis. 61
29748187 2018
21
Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review. 61
29937398 2018
22
Development of a novel fluorescent activity assay for lecithin:cholesterol acyltransferase. 61
28882064 2018
23
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers. 61
28983876 2018
24
Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency. 61
28351888 2017
25
Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease. 61
27766813 2016
26
Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study. 61
26628614 2016
27
[Lecithin:Cholesterol Acyltransferase Deficiency, from genes to therapy]. 61
27960011 2016
28
Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase. 61
25727495 2015
29
Familial LCAT deficiency in a child with nephrotic syndrome. 61
23391322 2014
30
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. 61
24636183 2014
31
Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency. 61
24140107 2013
32
Nephrotic syndrome caused by immune-mediated acquired LCAT deficiency. 61
23620397 2013
33
Familial LCAT deficiency: from renal replacement to enzyme replacement. 61
23412821 2013
34
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. 61
22658148 2012
35
A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years. 61
22105454 2011
36
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. 61
21315357 2011
37
Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency. 61
21597230 2011
38
Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype. 61
19515369 2009
39
Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype. 61
19329119 2009
40
Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. 61
19230892 2009
41
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans. 61
19687369 2009
42
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency. 61
17452402 2007
43
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 61
17439325 2007
44
Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. 61
16216249 2006
45
LCAT deficiency: molecular and phenotypic characterization of an Italian family. 61
16874701 2006
46
Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family. 61
16051254 2006
47
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. 61
15994445 2005
48
Cardiac surgery for a patient with familial lecithin: cholesterol acyltransferase deficiency. 61
15997755 2005
49
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. 61
15115696 2004
50
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. 61
12957688 2003

Variations for Familial Lcat Deficiency

Expression for Familial Lcat Deficiency

Search GEO for disease gene expression data for Familial Lcat Deficiency.

Pathways for Familial Lcat Deficiency

Pathways related to Familial Lcat Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 LCAT APOE APOA2 APOA1 ALB
2
Show member pathways
12.26 APOE APOA2 APOA1
3
Show member pathways
11.91 APOE APOA1 ALB
4
Show member pathways
11.87 APOE APOA2 APOA1
5
Show member pathways
11.56 LCAT APOE APOA2 APOA1 ALB
6 11.54 APOE APOA1 ALB
7 11.38 APOA2 APOA1
8
Show member pathways
11.35 APOE APOA1 ALB
9
Show member pathways
11.33 LCAT APOE APOA2 APOA1
10 11.1 APOA1 ALB
11 10.85 APOA2 APOA1
12 10.6 APOA2 APOA1

GO Terms for Familial Lcat Deficiency

Cellular components related to Familial Lcat Deficiency according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 LCAT APOE APOA2 APOA1 ALB
2 extracellular exosome GO:0070062 9.89 LCAT APOE APOA2 APOA1 ALB
3 extracellular space GO:0005615 9.84 LCAT APOE APOA1 ALB
4 early endosome GO:0005769 9.7 APOE APOA2 APOA1
5 endoplasmic reticulum lumen GO:0005788 9.62 APOE APOA2 APOA1 ALB
6 endocytic vesicle lumen GO:0071682 9.48 APOE APOA1
7 low-density lipoprotein particle GO:0034362 9.46 APOE APOA1
8 blood microparticle GO:0072562 9.46 APOE APOA2 APOA1 ALB
9 spherical high-density lipoprotein particle GO:0034366 9.43 APOA2 APOA1
10 very-low-density lipoprotein particle GO:0034361 9.43 APOE APOA2 APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOE APOA1
12 discoidal high-density lipoprotein particle GO:0034365 9.37 APOE APOA1
13 chylomicron GO:0042627 9.13 APOE APOA2 APOA1
14 high-density lipoprotein particle GO:0034364 8.92 LCAT APOE APOA2 APOA1

Biological processes related to Familial Lcat Deficiency according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.89 APOE APOA2 APOA1 ALB
2 cellular protein metabolic process GO:0044267 9.87 APOE APOA2 APOA1 ALB
3 lipid metabolic process GO:0006629 9.86 LCAT APOE APOA1
4 receptor-mediated endocytosis GO:0006898 9.82 APOE APOA1 ALB
5 lipid transport GO:0006869 9.82 APOE APOA2 APOA1
6 steroid metabolic process GO:0008202 9.81 LCAT APOE APOA1
7 cholesterol metabolic process GO:0008203 9.81 LCAT APOE APOA2 APOA1
8 cholesterol homeostasis GO:0042632 9.78 LCAT APOE APOA2 APOA1
9 retinoid metabolic process GO:0001523 9.76 APOE APOA2 APOA1
10 intermembrane lipid transfer GO:0120009 9.75 APOE APOA2 APOA1
11 phosphatidylcholine biosynthetic process GO:0006656 9.73 LCAT APOA2 APOA1
12 cholesterol efflux GO:0033344 9.72 APOE APOA2 APOA1
13 lipoprotein metabolic process GO:0042157 9.71 APOE APOA2 APOA1
14 cholesterol transport GO:0030301 9.7 LCAT APOA2 APOA1
15 regulation of lipid metabolic process GO:0019216 9.68 APOA2 APOA1
16 cellular oxidant detoxification GO:0098869 9.68 APOE ALB
17 phospholipid metabolic process GO:0006644 9.68 LCAT APOA1
18 positive regulation of phagocytosis GO:0050766 9.67 APOA2 APOA1
19 triglyceride metabolic process GO:0006641 9.67 APOE APOA2
20 triglyceride homeostasis GO:0070328 9.67 APOE APOA1
21 high-density lipoprotein particle assembly GO:0034380 9.67 APOE APOA2 APOA1
22 positive regulation of cholesterol efflux GO:0010875 9.66 APOE APOA1
23 phosphatidylcholine metabolic process GO:0046470 9.66 LCAT APOA1
24 positive regulation of lipid biosynthetic process GO:0046889 9.65 APOE APOA1
25 low-density lipoprotein particle remodeling GO:0034374 9.65 APOE APOA2
26 regulation of Cdc42 protein signal transduction GO:0032489 9.63 APOE APOA1
27 peptidyl-methionine modification GO:0018206 9.63 APOA2 APOA1
28 phospholipid efflux GO:0033700 9.63 APOE APOA2 APOA1
29 negative regulation of cytokine production involved in immune response GO:0002719 9.62 APOA2 APOA1
30 protein oxidation GO:0018158 9.62 APOA2 APOA1
31 positive regulation of phospholipid efflux GO:1902995 9.61 APOE APOA1
32 negative regulation of lipase activity GO:0060192 9.61 APOA2 APOA1
33 chylomicron assembly GO:0034378 9.61 APOE APOA2 APOA1
34 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.6 APOA2 APOA1
35 high-density lipoprotein particle clearance GO:0034384 9.58 APOE APOA2 APOA1
36 very-low-density lipoprotein particle remodeling GO:0034372 9.54 LCAT APOE APOA1
37 chylomicron remodeling GO:0034371 9.5 APOE APOA2 APOA1
38 positive regulation of cholesterol esterification GO:0010873 9.43 APOE APOA2 APOA1
39 lipoprotein biosynthetic process GO:0042158 9.33 LCAT APOE APOA1
40 reverse cholesterol transport GO:0043691 9.26 LCAT APOE APOA2 APOA1
41 high-density lipoprotein particle remodeling GO:0034375 9.02 LCAT APOE APOA2 APOA1 ALB

Molecular functions related to Familial Lcat Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.7 APOE APOA2 APOA1
2 lipid binding GO:0008289 9.67 APOE APOA2 APOA1 ALB
3 phospholipid binding GO:0005543 9.61 APOE APOA2 APOA1
4 amyloid-beta binding GO:0001540 9.56 APOE APOA1
5 heat shock protein binding GO:0031072 9.55 APOA2 APOA1
6 cholesterol binding GO:0015485 9.54 APOA2 APOA1
7 phosphatidylcholine binding GO:0031210 9.51 APOA2 APOA1
8 antioxidant activity GO:0016209 9.49 APOE ALB
9 high-density lipoprotein particle binding GO:0008035 9.48 APOA2 APOA1
10 lipoprotein particle binding GO:0071813 9.46 APOE APOA1
11 lipase inhibitor activity GO:0055102 9.4 APOA2 APOA1
12 lipid transporter activity GO:0005319 9.33 APOE APOA2 APOA1
13 high-density lipoprotein particle receptor binding GO:0070653 9.32 APOA2 APOA1
14 apolipoprotein receptor binding GO:0034190 9.26 APOA2 APOA1
15 intermembrane cholesterol transfer activity GO:0120020 9.13 APOE APOA2 APOA1
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 8.8 APOE APOA2 APOA1

Sources for Familial Lcat Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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