MCID: FML330
MIFTS: 37

Familial Lcat Deficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Familial Lcat Deficiency

MalaCards integrated aliases for Familial Lcat Deficiency:

Name: Familial Lcat Deficiency 49 24
Lecithin Acyltransferase Deficiency 24 69
Complete Lcat Deficiency 49 24
Norum Disease 49 24
Fld 49 24
Familial Lecithin-Cholesterol Acyltransferase Deficiency 24
Lecithin:cholesterol Acyltransferase Deficiency 24
Lcat Deficiency 24
Norum's Disease 24

Classifications:



Summaries for Familial Lcat Deficiency

NIH Rare Diseases : 49 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. Last updated: 6/3/2017

MalaCards based summary : Familial Lcat Deficiency, also known as lecithin acyltransferase deficiency, is related to fish-eye disease and defective apolipoprotein b-100. 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 drugs Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Genetics Home Reference : 24 Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.

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 51)
# Related Disease Score Top Affiliating Genes
1 fish-eye disease 31.4 APOA1 APOA2 LCAT
2 defective apolipoprotein b-100 30.0 APOE LCAT
3 lecithin:cholesterol acyltransferase deficiency 29.9 ALB APOA1 APOA2 APOE LCAT
4 nephrotic syndrome 29.4 ALB APOA1
5 fatty liver disease 11.1
6 sea-blue histiocyte disease 10.1 APOE LCAT
7 kwashiorkor 10.1 ALB LCAT
8 apo a-i deficiency 10.1 APOA1 LCAT
9 amyloidosis aa 10.0 APOA1 LCAT
10 fetal macrosomia 10.0 APOA1 LCAT
11 hepatic lipase deficiency 10.0 APOA1 APOE
12 cerebral atherosclerosis 10.0 APOA1 APOE
13 cholelithiasis 10.0 ALB APOE
14 ischemic heart disease 10.0 APOA1 APOE
15 hypertriglyceridemia, familial 10.0 APOA1 APOE
16 hyperlipoproteinemia, type iii 10.0 APOA1 APOE
17 hyperlipidemia, familial combined 10.0 APOA1 APOE
18 testicular yolk sac tumor 9.9 ALB APOA1
19 carotid artery disease 9.9 APOA1 APOE
20 gallbladder disease 9.9 APOA1 APOE
21 nervous system disease 9.9 ALB APOE
22 peripheral vascular disease 9.9 ALB APOA1
23 atherosclerosis susceptibility 9.8 APOA1 APOE
24 peritonitis 9.8
25 endotheliitis 9.8
26 schnyder corneal dystrophy 9.8 APOA2 APOE
27 hereditary amyloidosis 9.8 APOA1 APOA2
28 arteriosclerosis 9.7 APOA1 APOE
29 amyloidosis, familial visceral 9.7 APOA1 APOA2
30 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOE LCAT
31 abetalipoproteinemia 9.7 APOA1 APOE LCAT
32 familial hyperlipidemia 9.7 APOA1 APOE LCAT
33 lipid metabolism disorder 9.7 APOA1 APOE LCAT
34 amyloidosis 9.7 APOA1 APOE
35 coronary stenosis 9.7 ALB APOA1 APOE
36 arteries, anomalies of 9.6 ALB APOA1 APOE
37 lipoprotein glomerulopathy 9.6 APOA2 APOE LCAT
38 cerebrovascular disease 9.5 APOA1 APOE
39 hypoalphalipoproteinemia, primary 9.5 APOA1 APOA2 LCAT
40 leukodystrophy, hypomyelinating, 3 9.4 APOA1 APOA2 APOE
41 hyperlipoproteinemia, type iv 9.4 APOA1 APOA2 APOE
42 coronary artery anomaly 9.4 APOA1 APOA2 APOE
43 body mass index quantitative trait locus 11 9.3 APOA1 APOA2 APOE
44 hypolipoproteinemia 9.1 APOA1 APOA2 APOE LCAT
45 hyperalphalipoproteinemia 1 9.1 APOA1 APOA2 APOE LCAT
46 coronary heart disease 1 9.1 APOA1 APOA2 APOE LCAT
47 hypercholesterolemia, familial 9.1 APOA1 APOA2 APOE LCAT
48 myocardial infarction 9.0 ALB APOA1 APOA2 APOE
49 arcus corneae 8.7 ALB APOA1 APOA2 APOE LCAT
50 tangier disease 8.7 ALB APOA1 APOA2 APOE LCAT

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



Diseases related to Familial Lcat Deficiency

Symptoms & Phenotypes for Familial Lcat Deficiency

GenomeRNAi Phenotypes related to Familial Lcat Deficiency according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.96 APOA1 APOE
2 Increased LDL uptake GR00340-A-1 8.62 APOA1 APOE

MGI Mouse Phenotypes related to Familial Lcat Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 ALB APOA1 APOA2 APOE LCAT
2 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):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 657311 5754
3
Cosyntropin Approved Phase 3 16960-16-0 16129617
4 Racepinephrine Approved Phase 3 329-65-7
5 Respiratory System Agents Phase 3
6 Adrenergic Agents Phase 3
7 Adrenergic Agonists Phase 3
8 Adrenergic alpha-Agonists Phase 3
9 Mydriatics Phase 3
10 Adrenergic beta-Agonists Phase 3
11 Neurotransmitter Agents Phase 3
12 Cortisol succinate Phase 3
13 Vasoconstrictor Agents Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
17 Peripheral Nervous System Agents Phase 3
18 Anti-Asthmatic Agents Phase 3
19 Hydrocortisone 17-butyrate 21-propionate Phase 3
20 Hydrocortisone acetate Phase 3
21 Epinephryl borate Phase 3
22 Autonomic Agents Phase 3
23 Bronchodilator Agents Phase 3
24 Lecithin Nutraceutical Phase 1
25
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
26 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Recruiting NCT03368066 Phase 3 Cosyntropin
2 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1 ACP-501
3 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

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:

38
Eye, Kidney, Liver, Spleen, Lymph Node, Endothelial

Publications for Familial Lcat Deficiency

Articles related to Familial Lcat Deficiency:

(show all 26)
# Title Authors Year
1
Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency. ( 28351888 )
2017
2
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers. ( 28983876 )
2017
3
Familial LCAT deficiency in a child with nephrotic syndrome. ( 23391322 )
2013
4
Familial LCAT deficiency: from renal replacement to enzyme replacement. ( 23412821 )
2013
5
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. ( 21315357 )
2011
6
Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype. ( 19515369 )
2009
7
Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. ( 19230892 )
2009
8
Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype. ( 19329119 )
2009
9
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency. ( 17452402 )
2007
10
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. ( 17439325 )
2007
11
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. ( 12957688 )
2003
12
[Familial LCAT deficiency]. ( 11957819 )
2001
13
[Familial LCAT deficiency--clinical picture. Case report]. ( 11392166 )
2000
14
[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. ( 7602789 )
1995
15
[Familial LCAT deficiency]. ( 7853712 )
1994
16
Effects of long-term, low-fat diet on plasma apo E in familial LCAT deficiency. ( 8255012 )
1993
17
[Molecular defects in familial LCAT deficiency]. ( 8464161 )
1993
18
Familial LCAT deficiency and fish-eye disease. ( 3141686 )
1988
19
A new case of familial LCAT deficiency. ( 6624548 )
1983
20
Erythrocyte alterations in praseodymium-induced lecithin:cholesterol acyltransferase (LCAT) deficiency in the rat: comparison with familial LCAT deficiency in man. ( 7255886 )
1981
21
Lipid compositions of plasma major lipoproteins and lipoprotein lipase activity in hypolipidemic and hyperlipidemic siblings with familial LCAT deficiency. ( 746345 )
1978
22
Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent. ( 746343 )
1978
23
Ocular manifestations in familial LCAT deficiency. ( 821561 )
1976
24
Corneal and fundus changes in familial LCAT-deficiency. ( 4406932 )
1974
25
Editorial: Familial LCAT deficiency. ( 4757213 )
1973
26
Studies of lipoprotein-X (LP-X) and bile acids in familial LCAT deficiency. Preliminary report. ( 4757217 )
1973

Variations for Familial Lcat Deficiency

ClinVar genetic disease variations for Familial Lcat Deficiency:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
2 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
3 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh38 Chromosome 16, 67942701: 67942702
4 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh37 Chromosome 16, 67974374: 67974374
5 LCAT LCAT, 1-BP INS, EX1 insertion Pathogenic
6 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh37 Chromosome 16, 67974303: 67974303
7 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh37 Chromosome 16, 67976316: 67976316
8 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh37 Chromosome 16, 67976622: 67976622
9 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh38 Chromosome 16, 67940030: 67940030
10 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh37 Chromosome 16, 67974096: 67974096
11 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh37 Chromosome 16, 67976870: 67976870

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
13.54 ALB APOA1 APOA2 APOE LCAT
2
Show member pathways
12.26 APOA1 APOA2 APOE
3
Show member pathways
11.91 ALB APOA1 APOE
4
Show member pathways
11.87 APOA1 APOA2 APOE
5
Show member pathways
11.56 ALB APOA1 APOA2 APOE LCAT
6 11.54 ALB APOA1 APOE
7 11.35 APOA1 APOA2
8
Show member pathways
11.35 ALB APOA1 APOE
9
Show member pathways
11.33 APOA1 APOA2 APOE LCAT
10 11.1 ALB APOA1
11 10.85 APOA1 APOA2
12 10.6 APOA1 APOA2

GO Terms for Familial Lcat Deficiency

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.93 ALB APOA1 APOA2 APOE LCAT
2 extracellular region GO:0005576 9.91 ALB APOA1 APOA2 APOE LCAT
3 extracellular space GO:0005615 9.85 ALB APOA1 APOA2 APOE LCAT
4 early endosome GO:0005769 9.7 APOA1 APOA2 APOE
5 endoplasmic reticulum lumen GO:0005788 9.62 ALB APOA1 APOA2 APOE
6 blood microparticle GO:0072562 9.56 ALB APOA1 APOA2 APOE
7 extracellular vesicle GO:1903561 9.55 APOA1 APOE
8 endocytic vesicle lumen GO:0071682 9.49 APOA1 APOE
9 low-density lipoprotein particle GO:0034362 9.48 APOA1 APOE
10 spherical high-density lipoprotein particle GO:0034366 9.43 APOA1 APOA2
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOA1 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.37 APOA1 APOE
13 very-low-density lipoprotein particle GO:0034361 9.33 APOA1 APOA2 APOE
14 chylomicron GO:0042627 9.13 APOA1 APOA2 APOE
15 high-density lipoprotein particle GO:0034364 8.92 APOA1 APOA2 APOE LCAT

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.89 ALB APOA1 APOA2 APOE
2 cellular protein metabolic process GO:0044267 9.86 ALB APOA1 APOA2 APOE
3 lipid metabolic process GO:0006629 9.85 APOA1 APOE LCAT
4 receptor-mediated endocytosis GO:0006898 9.83 ALB APOA1 APOE
5 lipid transport GO:0006869 9.82 APOA1 APOA2 APOE
6 steroid metabolic process GO:0008202 9.81 APOA1 APOE LCAT
7 retinoid metabolic process GO:0001523 9.76 APOA1 APOA2 APOE
8 cholesterol metabolic process GO:0008203 9.76 APOA1 APOA2 APOE LCAT
9 phosphatidylcholine biosynthetic process GO:0006656 9.72 APOA1 APOA2 LCAT
10 cholesterol transport GO:0030301 9.71 APOA1 APOA2 LCAT
11 lipoprotein metabolic process GO:0042157 9.7 APOA1 APOA2 APOE
12 platelet degranulation GO:0002576 9.69 ALB APOA1
13 negative regulation of inflammatory response GO:0050728 9.69 APOA1 APOE
14 cholesterol efflux GO:0033344 9.69 APOA1 APOA2 APOE
15 positive regulation of catalytic activity GO:0043085 9.68 APOA2 APOE
16 regulation of lipid metabolic process GO:0019216 9.68 APOA1 APOA2
17 cellular oxidant detoxification GO:0098869 9.68 ALB APOE
18 phospholipid metabolic process GO:0006644 9.67 APOA1 LCAT
19 response to estrogen GO:0043627 9.67 APOA1 APOA2
20 animal organ regeneration GO:0031100 9.67 APOA1 APOA2
21 high-density lipoprotein particle assembly GO:0034380 9.67 APOA1 APOA2 APOE
22 triglyceride metabolic process GO:0006641 9.66 APOA2 APOE
23 triglyceride homeostasis GO:0070328 9.66 APOA1 APOE
24 triglyceride catabolic process GO:0019433 9.65 APOA1 APOE
25 low-density lipoprotein particle remodeling GO:0034374 9.65 APOA2 APOE
26 phospholipid efflux GO:0033700 9.65 APOA1 APOA2 APOE
27 neuron projection regeneration GO:0031102 9.63 APOA1 APOE
28 regulation of Cdc42 protein signal transduction GO:0032489 9.63 APOA1 APOE
29 very-low-density lipoprotein particle remodeling GO:0034372 9.62 APOE LCAT
30 negative regulation of cytokine secretion involved in immune response GO:0002740 9.62 APOA1 APOA2
31 peptidyl-methionine modification GO:0018206 9.61 APOA1 APOA2
32 regulation of intestinal cholesterol absorption GO:0030300 9.61 APOA1 APOA2
33 chylomicron assembly GO:0034378 9.61 APOA1 APOA2 APOE
34 negative regulation of lipase activity GO:0060192 9.6 APOA1 APOA2
35 protein oxidation GO:0018158 9.58 APOA1 APOA2
36 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOA2 APOE
37 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.57 APOA1 APOA2
38 cholesterol homeostasis GO:0042632 9.56 APOA1 APOA2 APOE LCAT
39 chylomicron remodeling GO:0034371 9.54 APOA1 APOA2 APOE
40 high-density lipoprotein particle clearance GO:0034384 9.5 APOA1 APOA2 APOE
41 lipoprotein biosynthetic process GO:0042158 9.33 APOA1 APOE LCAT
42 reverse cholesterol transport GO:0043691 9.26 APOA1 APOA2 APOE LCAT
43 high-density lipoprotein particle remodeling GO:0034375 9.02 ALB APOA1 APOA2 APOE LCAT

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.62 ALB APOA1 APOA2 APOE
2 phospholipid binding GO:0005543 9.61 APOA1 APOA2 APOE
3 amyloid-beta binding GO:0001540 9.55 APOA1 APOE
4 heat shock protein binding GO:0031072 9.54 APOA1 APOA2
5 antioxidant activity GO:0016209 9.52 ALB APOE
6 phosphatidylcholine binding GO:0031210 9.51 APOA1 APOA2
7 high-density lipoprotein particle binding GO:0008035 9.49 APOA1 APOA2
8 lipase inhibitor activity GO:0055102 9.48 APOA1 APOA2
9 lipoprotein particle binding GO:0071813 9.46 APOA1 APOE
10 cholesterol binding GO:0015485 9.43 APOA1 APOA2 APOE
11 high-density lipoprotein particle receptor binding GO:0070653 9.4 APOA1 APOA2
12 apolipoprotein receptor binding GO:0034190 9.37 APOA1 APOA2
13 lipid transporter activity GO:0005319 9.33 APOA1 APOA2 APOE
14 cholesterol transporter activity GO:0017127 9.13 APOA1 APOA2 APOE
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 8.8 APOA1 APOA2 APOE

Sources for Familial Lcat Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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