FED
MCID: FSH001
MIFTS: 55

Fish-Eye Disease (FED) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Fish-Eye Disease

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Overview of Fish Eye Disease more...

MalaCards: Fish-Eye Disease, also known as FED, is related to complete lcat deficiency and atherosclerosis, and has symptoms including hyperlipidemia/hypercholesterolemia/hypertriglyceridemia, angor pectoris/myocardial infarction and hematuria/microhematuria. An important gene associated with Fish-Eye Disease is LCAT (lecithin-cholesterol acyltransferase), and among its related pathways are Diseases associated with visual transduction and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds pdpc and torcetrapib have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and adipocyte.

Description from OMIM:48 136120,245900

Aliases & Classifications for Fish-Eye Disease

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Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
lecithin-cholesterol acyltransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable
fish-eye disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

fish-eye disease 44 23 22 48 46 50 63
fed 44 22 50
dyslipoproteinemic corneal dystrophy 44 22
partial lcat deficiency 22 50
alpha-lcat deficiency 44 22
lcata deficiency 44 22
alpha-lecithin cholesterol acyltransferase deficiency 44
alpha-lecithin:cholesterol acyltransferase deficiency 22
lecithin-cholesterol acyltransferase deficiency 50
lecithin acyltransferase deficiency 63
lcat deficiency 50


External Ids:

SNOMED-CT via Orphanet60 238091006, 238092004
ICD10 via Orphanet27 E78.6
MESH via Orphanet37 C538467
UMLS via Orphanet64 C0342895

Related Diseases for Fish-Eye Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Fish-Eye Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1complete lcat deficiency30.9APOA2, LCAT, APOA1
2atherosclerosis30.7LCAT, APOA2, APOA1
3hypobetalipoproteinemia30.6APOA1, LCAT
4nephrotic syndrome30.5LCAT, APOA1
5diabetes mellitus30.5APOA1, LCAT, APOA2
6proteinuria30.3APOA1, APOA2, LCAT
7norum disease30.2LCAT, APOA1, APOA2
8hypoalphalipoproteinemia30.2LCAT, APOA1, APOA2
9tangier disease30.2APOA2, APOA1, LCAT
10vascular disease30.1APOA1, LCAT
11eye disease10.9
12bloom syndrome10.4
13membranoproliferative glomerulonephritis10.4
14acute pancreatitis10.4
15alcoholic hepatitis10.4
16glomerulonephritis10.4
17glomerulosclerosis10.4
18hepatitis10.4
19histiocytosis10.4
20pancreatitis10.4
21sea-blue histiocytosis10.4
22splenomegaly10.4
23peritonitis10.1
24defective apolipoprotein b-10010.1
25arcus senilis10.0APOA1, LCAT
26amyloidosis, secondary10.0APOA1, LCAT
27abetalipoproteinemia10.0APOA1, LCAT
28alagille syndrome10.0LCAT, APOA1
29familial hypercholesterolemia10.0APOA1, LCAT
30fatty liver disease10.0APOA1, LCAT
31acute myocardial infarction10.0APOA1, LCAT
32amyloidosis, renal10.0APOA2, APOA1
33familial hypertriglyceridemia10.0APOA2, APOA1
34essential hypertension10.0LCAT, APOA1
35type 1 diabetes mellitus10.0APOA1, LCAT
36amyloidosis10.0APOA1, APOA2
37metabolic syndrome x10.0APOA1, LCAT
38hepatoblastoma10.0APOA2, APOA1
39primary hyperoxaluria10.0LCAT, APOA1
40chronic kidney failure10.0LCAT, APOA1
41galactosemia10.0LCAT, APOA1
42hyperalphalipoproteinemia9.9APOA2, APOA1, LCAT
43familial combined hyperlipidemia9.9LCAT, APOA2, APOA1
44hypertriglyceridemia9.9LCAT, APOA1, APOA2
45familial hyperlipidemia9.9LCAT, APOA1, APOA2
46hypercholesterolemia9.9APOA1, LCAT, APOA2
47hyperinsulinism9.9LCAT, APOA2, APOA1
48coronary artery disease9.9APOA1, LCAT, APOA2
49type 2 diabetes mellitus9.9APOA1, LCAT, APOA2
50myocardial infarction9.9APOA1, LCAT, APOA2

Graphical network of the top 20 diseases related to Fish-Eye Disease:



Diseases related to fish-eye disease

Symptoms for Fish-Eye Disease

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

136120

Clinical features from OMIM:

136120,245900

Symptoms:

50 (show all 14)
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • angor pectoris/myocardial infarction
  • hematuria/microhematuria
  • hemolytic anemia
  • lymphadenopathy/polyadenopathies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • renal failure
  • autosomal recessive inheritance
  • chronic arterial hypertension
  • corneal clouding/opacity/vascularisation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • visual loss/blindness/amblyopia
  • proteinuria

Drugs & Therapeutics for Fish-Eye Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Fish-Eye Disease

Drug clinical trials:

Search ClinicalTrials for Fish-Eye Disease

Search NIH Clinical Center for Fish-Eye Disease

Search CenterWatch for Fish-Eye Disease

Genetic Tests for Fish-Eye Disease

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Sources:
23GTR
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Genetic tests related to Fish-Eye Disease:

id Genetic test Affiliating Genes
1 Fish-Eye Disease23

Anatomical Context for Fish-Eye Disease

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34MalaCards
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MalaCards organs/tissues related to Fish-Eye Disease:

34
Eye, Liver, Adipocyte

Animal Models for Fish-Eye Disease or affiliated genes

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Publications for Fish-Eye Disease

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Sources:
53PubMed
See all sources

Articles related to Fish-Eye Disease:

(show all 50)
idTitleAuthorsYear
1
Clinical and histopathological features of a suspected case of fish-eye disease. (22855019)
2012
2
Disturbed apolipoprotein A-I-containing lipoproteins in fish-eye disease are improved by the lecithin:cholesterol acyltransferase produced by gene-transduced adipocytes in vitro. (21074466)
2011
3
Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase. (16780378)
2006
4
Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. (16216249)
2006
5
Fish eye disease revealing a partial LCAT deficiency]. (15936482)
2005
6
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. (15115696)
2004
7
Gene symbol: LCAT. Disease: Fish eye disease. (15678588)
2004
8
Corneal opacifications in a low high density lipoprotein syndrome: suspicion of fish eye disease: a case report. (12455137)
2001
9
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. (10787436)
2000
10
A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. (10450185)
1999
11
Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. (9645018)
1998
12
Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea. (9261271)
1997
13
Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. (9160810)
1997
14
Two novel molecular defects in the LCAT gene are associated with fish eye disease. (8620346)
1996
15
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. (8820100)
1996
16
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). (8755645)
1996
17
A unique genetic and biochemical presentation of fish-eye disease. (8675648)
1995
18
Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. (7602789)
1995
19
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. (8282802)
1994
20
Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. (8221181)
1993
21
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. (1588268)
1992
22
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. (1424675)
1992
23
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. (1571050)
1992
24
A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. (2052566)
1991
25
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. (1778223)
1991
26
Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease. (3410011)
1988
27
Familial LCAT deficiency and fish-eye disease. (3141686)
1988
28
Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase. (3374277)
1988
29
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. (3600207)
1987
30
Low A-esterase activity in serum of patients with fish-eye disease. (3030583)
1987
31
Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. (3630774)
1987
32
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
33
The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease. (2823801)
1987
34
Hypoalphalipoproteinemia resembling fish eye disease. (3591467)
1987
35
Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease. (3630775)
1987
36
In vitro normalization of cholesteryl ester content and particle size of fish eye disease high density lipoproteins. (3591466)
1987
37
Bile acids and plasma high density lipoproteins: biliary lipid metabolism in fish eye disease. (3089811)
1986
38
Plasma apolipoprotein pattern in fish-eye disease examined by high-resolution two-dimensional electrophoresis. (3933853)
1985
39
Paradoxical esterification of plasma cholesterol in fish eye disease. (4025005)
1985
40
Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. (4061122)
1985
41
Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects. (4061123)
1985
42
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
43
Electron microscopic structure of serum lipoproteins from patients with fish eye disease. (6704050)
1984
44
Studies of lipoprotein metabolism in a patient with fish-eye disease. (6434321)
1984
45
Plasma lipid transfer in fish-eye disease. (6613682)
1983
46
Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. (6802651)
1982
47
Fish eye disease. (6756500)
1982
48
Variant fish-eye disease? (6103240)
1980
49
Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia. (91022)
1979
50
A further case of fish-eye disease. (92725)
1979

Variations for Fish-Eye Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fish-Eye Disease:

65 (show all 12)
id Symbol AA change Variation ID SNP ID
1LCATp.Pro34LeuVAR_004252
2LCATp.Thr147IleVAR_004256
3LCATp.Met276LysVAR_004264
4LCATp.Thr371MetVAR_004267
5LCATp.Pro34GlnVAR_039021
6LCATp.Val70GluVAR_039023
7LCATp.Arg123CysVAR_039026
8LCATp.Arg159GlnVAR_039027
9LCATp.Thr298AlaVAR_039033
10LCATp.Trp99SerVAR_066862
11LCATp.Leu338PheVAR_066867
12LCATp.Arg347CysVAR_066868

Clinvar genetic disease variations for Fish-Eye Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1LCATNM_000229.1(LCAT): c.440C> T (p.Thr147Ile)single nucleotide variantPathogenicrs121908050GRCh37Chr 16, 67976657: 67976657
2NM_000229.1(LCAT): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs121908051GRCh37Chr 16, 67977904: 67977904
3LCATNM_000229.1(LCAT): c.1112C> T (p.Thr371Met)single nucleotide variantPathogenicrs121908053GRCh37Chr 16, 67974018: 67974018
4LCATNM_000229.1(LCAT): c.970_972delCTC (p.Leu325del)deletionPathogenicrs121908056GRCh37Chr 16, 67974158: 67974160
5LCATNM_000229.1(LCAT): c.463A> G (p.Asn155Asp)single nucleotide variantPathogenicrs121908057GRCh37Chr 16, 67976634: 67976634
6LCATLCAT, IVS4AS, T-C, -22single nucleotide variantPathogenic

Expression for genes affiliated with Fish-Eye Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fish-Eye Disease

Search GEO for disease gene expression data for Fish-Eye Disease.

Pathways for genes affiliated with Fish-Eye Disease

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB
See all sources

Pathways related to Fish-Eye Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1APOA2, APOA1
2
Show member pathways
9.1APOA1, APOA2
3
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.1APOA2, APOA1
49.1APOA1, APOA2
59.1APOA2, APOA1
6
Show member pathways
8.5LCAT, APOA2, APOA1
7
Show member pathways
8.5LCAT, APOA2, APOA1
8
Show member pathways
8.5LCAT, APOA2, APOA1

Compounds for genes affiliated with Fish-Eye Disease

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pdpc469.7LCAT, APOA1
2torcetrapib469.7APOA1, LCAT
3plpc469.7APOA1, LCAT
4retinyl palmitate46 2510.7LCAT, APOA1
5probucol46 1210.7LCAT, APOA1
6guanidine46 25 1211.7APOA1, LCAT
7acetaldehyde30 46 2511.6LCAT, APOA1
8pravastatin46 52 30 25 1213.6LCAT, APOA1
9alpha tocopherol469.6LCAT, APOA1
10palmitate469.6APOA1, LCAT
11atorvastatin46 52 30 25 1213.6LCAT, APOA1
12simvastatin46 52 62 30 25 1214.5LCAT, APOA1
13sterol469.5LCAT, APOA1
14gemfibrozil30 46 1211.5APOA1, APOA2
15mspi469.5APOA2, APOA1
16vitamin a46 25 1211.4LCAT, APOA1
17fenofibrate46 52 1211.4APOA2, APOA1
18lecithin469.4LCAT, APOA2
19ascorbic acid46 2510.4APOA1, LCAT
20methionine469.0LCAT, APOA2
21fibrinogen469.0APOA2, APOA1
22fatty acid469.0LCAT, APOA2
23p-opc468.9LCAT, APOA2, APOA1
24dimyristoylphosphatidylcholine468.9APOA1, APOA2, LCAT
25intralipid468.9LCAT, APOA2, APOA1
26cholesterol ester468.9APOA1, APOA2, LCAT
27bezafibrate46 30 1210.9LCAT, APOA2, APOA1
28triacylglycerol468.9APOA1, APOA2, LCAT
29phosphatidylcholine468.9LCAT, APOA2, APOA1
30phospholipid468.9APOA1, APOA2, LCAT
31cholesterol46 30 25 1211.8LCAT, APOA2, APOA1
32estrogen468.8APOA1, APOA2, LCAT
33glutamine468.7LCAT, APOA2
34lipid468.7APOA1, APOA2, LCAT
35serine468.7APOA1, APOA2, LCAT

GO Terms for genes affiliated with Fish-Eye Disease

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Sources:
17Gene Ontology
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Cellular components related to Fish-Eye Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:0343669.2APOA2, APOA1
2very-low-density lipoprotein particleGO:0343619.2APOA2, APOA1
3blood microparticleGO:0725629.1APOA1, APOA2
4endoplasmic reticulum lumenGO:0057889.1APOA2, APOA1
5early endosomeGO:0057699.0APOA2, APOA1
6high-density lipoprotein particleGO:0343648.7LCAT, APOA2, APOA1
7extracellular regionGO:0055768.2LCAT, APOA2, APOA1

Biological processes related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:0421589.6APOA1, LCAT
2cholesterol transportGO:0303019.5LCAT, APOA1
3negative regulation of lipase activityGO:0601929.5APOA1, APOA2
4negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.5APOA1, APOA2
5regulation of intestinal cholesterol absorptionGO:0303009.5APOA2, APOA1
6high-density lipoprotein particle assemblyGO:0343809.4APOA1, APOA2
7protein oxidationGO:0181589.4APOA1, APOA2
8negative regulation of cytokine secretion involved in immune responseGO:0027409.4APOA1, APOA2
9high-density lipoprotein particle clearanceGO:0343849.4APOA1, APOA2
10peptidyl-methionine modificationGO:0182069.4APOA1, APOA2
11positive regulation of cholesterol esterificationGO:0108739.4APOA2, APOA1
12phospholipid effluxGO:0337009.4APOA2, APOA1
13cholesterol effluxGO:0333449.3APOA1, APOA2
14organ regenerationGO:0311009.3APOA2, APOA1
15retinoid metabolic processGO:0015239.2APOA2, APOA1
16response to estrogenGO:0436279.2APOA2, APOA1
17phototransduction, visible lightGO:0076039.1APOA1, APOA2
18response to drugGO:0424939.1APOA2, APOA1
19high-density lipoprotein particle remodelingGO:0343758.9LCAT, APOA2, APOA1
20reverse cholesterol transportGO:0436918.9LCAT, APOA2, APOA1
21phosphatidylcholine biosynthetic processGO:0066568.9APOA1, APOA2, LCAT
22lipoprotein metabolic processGO:0421578.9LCAT, APOA2, APOA1
23cholesterol homeostasisGO:0426328.9APOA1, APOA2, LCAT
24cholesterol metabolic processGO:0082038.9LCAT, APOA2, APOA1
25cellular lipid metabolic processGO:0442558.8APOA2, APOA1
26small molecule metabolic processGO:0442818.4LCAT, APOA2, APOA1

Molecular functions related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:0341909.3APOA2, APOA1
2high-density lipoprotein particle receptor bindingGO:0706539.3APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.2APOA2, APOA1
4lipase inhibitor activityGO:0551029.2APOA2, APOA1
5high-density lipoprotein particle bindingGO:0080359.1APOA1, APOA2
6phospholipid bindingGO:0055439.1APOA2, APOA1
7cholesterol transporter activityGO:0171279.0APOA2, APOA1
8cholesterol bindingGO:0154858.8APOA2, APOA1

Products for genes affiliated with Fish-Eye Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fish-Eye Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet