MCID: FML330
MIFTS: 34

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 50 25
Lecithin Acyltransferase Deficiency 25 69
Complete Lcat Deficiency 50 25
Norum Disease 50 25
Fld 50 25
Familial Lecithin-Cholesterol Acyltransferase Deficiency 25
Lecithin:cholesterol Acyltransferase Deficiency 25
Lcat Deficiency 25
Norum's Disease 25

Classifications:



Summaries for Familial Lcat Deficiency

NIH Rare Diseases : 50 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 hypobetalipoproteinemia and fish-eye disease. 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. Affiliated tissues include eye, kidney and liver, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Genetics Home Reference : 25 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 55)
id Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia 30.3 APOE LCAT
2 fish-eye disease 27.4 ALB APOA1 APOA2 APOE LCAT
3 norum disease 11.6
4 lipoprotein glomerulopathy 10.2 APOE LCAT
5 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.2 APOE LCAT
6 female infertility of uterine origin 10.2 ALB LCAT
7 aquagenic syringeal acrokeratoderm 10.2 APOA1 LCAT
8 amyloidosis nodular localized cutaneous 10.1 APOA1 LCAT
9 brain meningioma 10.1 ALB APOE
10 fetal parvovirus syndrome 10.1 APOA1 LCAT
11 pars planitis 10.1 APOA1 APOE
12 amelogenesis imperfecta, type iia3 10.1 APOA1 APOE
13 glomerulonephritis 10.0
14 membranoproliferative glomerulonephritis 10.0
15 islet cell tumor 10.0 APOA1 APOE
16 alzheimer disease-2 10.0 APOA1 APOE
17 dermatomyositis 10.0 ALB APOE
18 sleep disorder 10.0 ALB APOA1
19 priapism 10.0 ALB APOE
20 eye disease 9.9
21 pontocerebellar hypoplasia 9.9 APOA1 APOE
22 glossopharyngeal nerve disease 9.9 APOA1 APOE
23 prostate carcinoma in situ 9.9 ALB APOE
24 angina pectoris 9.8 ALB APOA1
25 nephrotic syndrome 9.8
26 peritonitis 9.8
27 defective apolipoprotein b-100 9.8
28 endotheliitis 9.8
29 hereditary congenital facial paresis 9.7 APOA1 APOA2
30 transient refractive change 9.7 ALB APOA1
31 malignant type ab thymoma 9.7 APOA1 APOE
32 chondrocalcinosis with early-onset osteoarthritis 9.7 APOA1 APOE LCAT
33 afibrinogenemia, congenital 9.6 APOA1 APOA2
34 wolfram syndrome 2 9.6 APOA1 APOE LCAT
35 acute apical periodontitis 9.6 APOA1 APOE LCAT
36 skin squamous cell carcinoma 9.6 APOA1 APOE LCAT
37 myelophthisic anemia 9.6 APOA1 APOE
38 melorheostosis 9.6 ALB APOA1 APOE
39 mental retardation, autosomal dominant 45 9.5 APOA2 APOE LCAT
40 atrophic muscular disease 9.4 APOA1 APOE
41 short stature, brachydactyly, intellectual developmental disability, and seizures 9.4 APOA1 APOA2 LCAT
42 migraine with or without aura 1 9.3 APOA1 APOA2 APOE
43 hyperlipidemia, familial combined 9.3 APOA1 APOA2 APOE
44 hyperchylomicronemia, late-onset 9.3 APOA1 APOA2 APOE
45 bird fancier's lung 8.9 APOA1 APOA2 APOE LCAT
46 apolipoprotein c-iii deficiency 8.9 APOA1 APOA2 APOE LCAT
47 lissencephaly 6, with microcephaly 8.8 APOA1 APOA2 APOE LCAT
48 codas syndrome 8.8 APOA1 APOA2 APOE LCAT
49 macular degeneration, age-related, 12 8.8 APOA1 APOA2 APOE LCAT
50 myocardial infarction 8.7 ALB APOA1 APOA2 APOE

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:

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 APOA2 APOE LCAT ALB APOA1
2 liver/biliary system MP:0005370 8.92 ALB APOA1 APOE LCAT

Drugs & Therapeutics for Familial Lcat Deficiency

Search Clinical Trials , 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:

39
Eye, Kidney, Liver, Spleen, Lymph Node, Endothelial

Publications for Familial Lcat Deficiency

Articles related to Familial Lcat Deficiency:

(show all 25)
id Title Authors Year
1
Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency. ( 28351888 )
2017
2
Familial LCAT deficiency in a child with nephrotic syndrome. ( 23391322 )
2013
3
Familial LCAT deficiency: from renal replacement to enzyme replacement. ( 23412821 )
2013
4
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. ( 21315357 )
2011
5
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
6
Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype. ( 19329119 )
2009
7
Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. ( 19230892 )
2009
8
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency. ( 17452402 )
2007
9
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. ( 17439325 )
2007
10
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. ( 12957688 )
2003
11
[Familial LCAT deficiency]. ( 11957819 )
2001
12
[Familial LCAT deficiency--clinical picture. Case report]. ( 11392166 )
2000
13
[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. ( 7602789 )
1995
14
[Familial LCAT deficiency]. ( 7853712 )
1994
15
Effects of long-term, low-fat diet on plasma apo E in familial LCAT deficiency. ( 8255012 )
1993
16
[Molecular defects in familial LCAT deficiency]. ( 8464161 )
1993
17
Familial LCAT deficiency and fish-eye disease. ( 3141686 )
1988
18
A new case of familial LCAT deficiency. ( 6624548 )
1983
19
Erythrocyte alterations in praseodymium-induced lecithin:cholesterol acyltransferase (LCAT) deficiency in the rat: comparison with familial LCAT deficiency in man. ( 7255886 )
1981
20
Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent. ( 746343 )
1978
21
Lipid compositions of plasma major lipoproteins and lipoprotein lipase activity in hypolipidemic and hyperlipidemic siblings with familial LCAT deficiency. ( 746345 )
1978
22
Ocular manifestations in familial LCAT deficiency. ( 821561 )
1976
23
Corneal and fundus changes in familial LCAT-deficiency. ( 4406932 )
1974
24
Editorial: Familial LCAT deficiency. ( 4757213 )
1973
25
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)
id 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 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 ALB APOA1 APOA2 APOE LCAT
2
Show member pathways
12.24 APOA1 APOA2 APOE
3
Show member pathways
11.89 ALB APOA1 APOA2 APOE LCAT
4
Show member pathways
11.87 APOA1 APOA2 APOE
5 11.53 ALB APOA1 APOE
6
Show member pathways
11.35 ALB APOA1 APOE
7 11.33 APOA1 APOA2
8 11.08 ALB APOA1
9 10.82 APOA1 APOA2
10
Show member pathways
10.76 APOA1 APOA2 APOE LCAT
11 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)
id 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 very-low-density lipoprotein particle GO:0034361 9.33 APOA1 APOA2 APOE
13 chylomicron GO:0042627 9.13 APOA1 APOA2 APOE
14 discoidal high-density lipoprotein particle GO:0034365 9.07 APOA1
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 44)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.99 ALB APOA1 APOA2 APOE
2 post-translational protein modification GO:0043687 9.89 ALB APOA1 APOA2 APOE
3 cellular protein metabolic process GO:0044267 9.86 ALB APOA1 APOA2 APOE
4 lipid metabolic process GO:0006629 9.85 APOA1 APOE LCAT
5 receptor-mediated endocytosis GO:0006898 9.83 ALB APOA1 APOE
6 lipid transport GO:0006869 9.82 APOA1 APOA2 APOE
7 steroid metabolic process GO:0008202 9.81 APOA1 APOE LCAT
8 retinoid metabolic process GO:0001523 9.76 APOA1 APOA2 APOE
9 cholesterol metabolic process GO:0008203 9.76 APOA1 APOA2 APOE LCAT
10 phosphatidylcholine biosynthetic process GO:0006656 9.72 APOA1 APOA2 LCAT
11 cholesterol transport GO:0030301 9.71 APOA1 APOA2 LCAT
12 cholesterol efflux GO:0033344 9.7 APOA1 APOA2 APOE
13 platelet degranulation GO:0002576 9.69 ALB APOA1
14 positive regulation of catalytic activity GO:0043085 9.69 APOA2 APOE
15 lipoprotein metabolic process GO:0042157 9.69 APOA1 APOA2 APOE
16 negative regulation of inflammatory response GO:0050728 9.68 APOA1 APOE
17 regulation of lipid metabolic process GO:0019216 9.68 APOA1 APOA2
18 cellular oxidant detoxification GO:0098869 9.68 ALB APOE
19 phospholipid metabolic process GO:0006644 9.67 APOA1 LCAT
20 response to estrogen GO:0043627 9.67 APOA1 APOA2
21 animal organ regeneration GO:0031100 9.67 APOA1 APOA2
22 high-density lipoprotein particle assembly GO:0034380 9.67 APOA1 APOA2 APOE
23 triglyceride metabolic process GO:0006641 9.66 APOA2 APOE
24 triglyceride homeostasis GO:0070328 9.66 APOA1 APOE
25 triglyceride catabolic process GO:0019433 9.65 APOA1 APOE
26 low-density lipoprotein particle remodeling GO:0034374 9.65 APOA2 APOE
27 phospholipid efflux GO:0033700 9.65 APOA1 APOA2 APOE
28 neuron projection regeneration GO:0031102 9.63 APOA1 APOE
29 regulation of Cdc42 protein signal transduction GO:0032489 9.63 APOA1 APOE
30 very-low-density lipoprotein particle remodeling GO:0034372 9.62 APOE LCAT
31 negative regulation of cytokine secretion involved in immune response GO:0002740 9.62 APOA1 APOA2
32 peptidyl-methionine modification GO:0018206 9.61 APOA1 APOA2
33 regulation of intestinal cholesterol absorption GO:0030300 9.61 APOA1 APOA2
34 chylomicron assembly GO:0034378 9.61 APOA1 APOA2 APOE
35 negative regulation of lipase activity GO:0060192 9.6 APOA1 APOA2
36 protein oxidation GO:0018158 9.58 APOA1 APOA2
37 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOA2 APOE
38 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.57 APOA1 APOA2
39 cholesterol homeostasis GO:0042632 9.56 APOA1 APOA2 APOE LCAT
40 chylomicron remodeling GO:0034371 9.54 APOA1 APOA2 APOE
41 high-density lipoprotein particle clearance GO:0034384 9.5 APOA1 APOA2 APOE
42 lipoprotein biosynthetic process GO:0042158 9.33 APOA1 APOE LCAT
43 reverse cholesterol transport GO:0043691 9.26 APOA1 APOA2 APOE LCAT
44 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)
id 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 heat shock protein binding GO:0031072 9.55 APOA1 APOA2
4 beta-amyloid binding GO:0001540 9.54 APOA1 APOE
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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