FED
MCID: FSH001
MIFTS: 56

Fish-Eye Disease (FED) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases categories
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Summaries for Fish-Eye Disease

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Genetics Home Reference:21 Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, 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 fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.

MalaCards based summary: Fish-Eye Disease, also known as dyslipoproteinemic corneal dystrophy, is related to hypobetalipoproteinemia and complete lcat deficiency, and has symptoms including corneal clouding/opacity/vascularisation, hemolytic anemia and hyperlipidemia/hypercholesterolemia/hypertriglyceridemia. 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.

Wikipedia:65 Fish eye disease is a genetic disorder involving a deficiency in LCAT, lecithin: cholesterol... more...

Descriptions from OMIM:46 136120,245900

Aliases & Classifications for Fish-Eye Disease

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Fish-Eye Disease, Aliases & Descriptions:

Name: Fish-Eye Disease 42 22 21 46 44 48 62
Dyslipoproteinemic Corneal Dystrophy 42 21 62
Alpha-Lcat Deficiency 42 21 62
Fed 42 21 48
Partial Lcat Deficiency 21 48
Lcata Deficiency 42 21
 
Lcat Deficiency 48 62
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 21
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 42
Alpha-Lecithin-Cholesterol Acyltransferase Deficiency 62
Lecithin Cholesterol Acyltransferase Deficiency 62
Lecithin-Cholesterol Acyltransferase Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
lcat 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


External Ids:

ICD10 via Orphanet26 E78.6
UMLS via Orphanet63 C0342895
MESH via Orphanet35 C538467

Related Diseases for Fish-Eye Disease

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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
1hypobetalipoproteinemia30.8APOA1, LCAT
2complete lcat deficiency30.8APOA2, LCAT, APOA1
3nephrotic syndrome30.6LCAT, APOA1
4atherosclerosis30.4LCAT, APOA2, APOA1
5diabetes mellitus30.2APOA1, LCAT, APOA2
6vascular disease30.1APOA1, LCAT
7proteinuria30.1APOA1, APOA2, LCAT
8hypoalphalipoproteinemia30.0LCAT, APOA1, APOA2
9tangier disease30.0APOA2, APOA1, LCAT
10norum disease29.8LCAT, APOA1, APOA2
11eye disease10.9
12alcoholic hepatitis10.4
13glomerulonephritis10.4
14hepatitis10.4
15bloom syndrome10.4
16membranoproliferative glomerulonephritis10.4
17acute pancreatitis10.4
18glomerulosclerosis10.4
19histiocytosis10.4
20pancreatitis10.4
21sea-blue histiocytosis10.4
22splenomegaly10.4
23arcus senilis10.1APOA1, LCAT
24amyloidosis, secondary10.1APOA1, LCAT
25abetalipoproteinemia10.1APOA1, LCAT
26alagille syndrome10.1LCAT, APOA1
27peritonitis10.1
28defective apolipoprotein b-10010.1
29familial hypercholesterolemia10.1APOA1, LCAT
30fatty liver disease10.1APOA1, 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 failure9.9LCAT, APOA1
41galactosemia9.8LCAT, APOA1
42hyperalphalipoproteinemia9.8APOA2, APOA1, LCAT
43familial combined hyperlipidemia9.8LCAT, APOA2, APOA1
44hypertriglyceridemia9.8LCAT, APOA1, APOA2
45familial hyperlipidemia9.8LCAT, APOA1, APOA2
46hypercholesterolemia9.8APOA1, LCAT, APOA2
47hyperinsulinism9.8LCAT, APOA2, APOA1
48coronary artery anomaly9.8APOA1, LCAT, APOA2
49type 2 diabetes mellitus9.8APOA1, LCAT, APOA2
50myocardial infarction9.8APOA1, 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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Symptoms by clinical synopsis from OMIM:

136120

Clinical features from OMIM:

136120,245900

Symptoms:

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

HPO human phenotypes related to Fish-Eye Disease:

(show all 24)
id Description Frequency HPO Source Accession
1 hemolytic anemia hallmark (90%) HP:0001878
2 abnormality of lipid metabolism hallmark (90%) HP:0003119
3 opacification of the corneal stroma hallmark (90%) HP:0007759
4 abnormality of lipid metabolism hallmark (90%) HP:0003119
5 opacification of the corneal stroma hallmark (90%) HP:0007759
6 renal insufficiency typical (50%) HP:0000083
7 proteinuria typical (50%) HP:0000093
8 hematuria typical (50%) HP:0000790
9 hypertension typical (50%) HP:0000822
10 visual impairment occasional (7.5%) HP:0000505
11 splenomegaly occasional (7.5%) HP:0001744
12 hepatomegaly occasional (7.5%) HP:0002240
13 atherosclerosis occasional (7.5%) HP:0002621
14 lymphadenopathy occasional (7.5%) HP:0002716
15 coronary artery disease occasional (7.5%) HP:0001677
16 splenomegaly occasional (7.5%) HP:0001744
17 hepatomegaly occasional (7.5%) HP:0002240
18 lymphadenopathy occasional (7.5%) HP:0002716
19 autosomal recessive inheritance HP:0000007
20 hypertriglyceridemia HP:0002155
21 hyperbetalipoproteinemia HP:0003141
22 hypoalphalipoproteinemia HP:0003233
23 increased circulating very-low-density lipoprotein cholesterol HP:0003362
24 opacification of the corneal stroma HP:0007759

Drugs & Therapeutics for Fish-Eye Disease

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Drug clinical trials:

Search ClinicalTrials for Fish-Eye Disease

Search NIH Clinical Center for Fish-Eye Disease

Genetic Tests for Fish-Eye Disease

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Genetic tests related to Fish-Eye Disease:

id Genetic test Affiliating Genes
1 Fish-Eye Disease22

Anatomical Context for Fish-Eye Disease

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MalaCards organs/tissues related to Fish-Eye Disease:

32
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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Articles related to Fish-Eye Disease:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. (24636183)
2014
2
Clinical and histopathological features of a suspected case of fish-eye disease. (22855019)
2012
3
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
4
Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase. (16780378)
2006
5
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
6
Fish eye disease revealing a partial LCAT deficiency]. (15936482)
2005
7
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. (15115696)
2004
8
Gene symbol: LCAT. Disease: Fish eye disease. (15678588)
2004
9
Corneal opacifications in a low high density lipoprotein syndrome: suspicion of fish eye disease: a case report. (12455137)
2001
10
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. (10787436)
2000
11
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
12
Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. (9645018)
1998
13
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
14
Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. (9160810)
1997
15
Two novel molecular defects in the LCAT gene are associated with fish eye disease. (8620346)
1996
16
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. (8820100)
1996
17
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). (8755645)
1996
18
A unique genetic and biochemical presentation of fish-eye disease. (8675648)
1995
19
Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. (7602789)
1995
20
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
21
Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. (8221181)
1993
22
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. (1588268)
1992
23
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. (1424675)
1992
24
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. (1571050)
1992
25
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
26
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. (1778223)
1991
27
Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease. (3410011)
1988
28
Familial LCAT deficiency and fish-eye disease. (3141686)
1988
29
Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase. (3374277)
1988
30
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. (3600207)
1987
31
Low A-esterase activity in serum of patients with fish-eye disease. (3030583)
1987
32
Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. (3630774)
1987
33
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
34
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
35
Hypoalphalipoproteinemia resembling fish eye disease. (3591467)
1987
36
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
37
In vitro normalization of cholesteryl ester content and particle size of fish eye disease high density lipoproteins. (3591466)
1987
38
Bile acids and plasma high density lipoproteins: biliary lipid metabolism in fish eye disease. (3089811)
1986
39
Plasma apolipoprotein pattern in fish-eye disease examined by high-resolution two-dimensional electrophoresis. (3933853)
1985
40
Paradoxical esterification of plasma cholesterol in fish eye disease. (4025005)
1985
41
Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. (4061122)
1985
42
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
43
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
44
Electron microscopic structure of serum lipoproteins from patients with fish eye disease. (6704050)
1984
45
Plasma lipid transfer in fish-eye disease. (6613682)
1983
46
Studies on high density lipoproteins in fish eye disease. (6846063)
1983
47
Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. (6802651)
1982
48
Fish eye disease. (6756500)
1982
49
Variant fish-eye disease? (6103240)
1980
50
A further case of fish-eye disease. (92725)
1979

Variations for Fish-Eye Disease

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UniProtKB/Swiss-Prot genetic disease variations for Fish-Eye Disease:

64 (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:

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1LCATNM_000229.1(LCAT): c.508T> C (p.Trp170Arg)single nucleotide variantPathogenicrs267607211GRCh37Chr 16, 67976589: 67976589
2LCATNM_000229.1(LCAT): c.951G> A (p.Met317Ile)single nucleotide variantPathogenicrs121908048GRCh37Chr 16, 67974179: 67974179
3LCATLCAT, 3-BP INSinsertionPathogenic
4LCATNM_000229.1(LCAT): c.756C> A (p.Asn252Lys)single nucleotide variantPathogenicrs121908049GRCh37Chr 16, 67974374: 67974374
5LCATNM_000229.1(LCAT): c.440C> T (p.Thr147Ile)single nucleotide variantPathogenicrs121908050GRCh37Chr 16, 67976657: 67976657
6LCATLCAT, 1-BP INS, EX1insertionPathogenic
7NM_000229.1(LCAT): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs121908051GRCh37Chr 16, 67977904: 67977904
8LCATNM_000229.1(LCAT): c.1112C> T (p.Thr371Met)single nucleotide variantPathogenicrs121908053GRCh37Chr 16, 67974018: 67974018
9LCATNM_000229.1(LCAT): c.827T> A (p.Met276Lys)single nucleotide variantPathogenicrs121908054GRCh37Chr 16, 67974303: 67974303
10LCATNM_000229.1(LCAT): c.698T> C (p.Leu233Pro)single nucleotide variantPathogenicrs28942087GRCh37Chr 16, 67976316: 67976316
11LCATNM_000229.1(LCAT): c.349G> A (p.Ala117Thr)single nucleotide variantPathogenicrs28940886GRCh37Chr 16, 67976842: 67976842
12LCATNM_000229.1(LCAT): c.475C> T (p.Arg159Trp)single nucleotide variantPathogenicrs28940887GRCh37Chr 16, 67976622: 67976622
13LCATLCAT, 1-BP INS, GLN376THR, FSinsertionPathogenic
14LCATNM_000229.1(LCAT): c.1034C> T (p.Thr345Met)single nucleotide variantPathogenicrs28940888GRCh37Chr 16, 67974096: 67974096
15LCATNM_000229.1(LCAT): c.321C> A (p.Tyr107Ter)single nucleotide variantPathogenicrs121908055GRCh37Chr 16, 67976870: 67976870
16LCATNM_000229.1(LCAT): c.970_972delCTC (p.Leu325del)deletionPathogenicrs121908056GRCh37Chr 16, 67974158: 67974160
17LCATNM_000229.1(LCAT): c.463A> G (p.Asn155Asp)single nucleotide variantPathogenicrs121908057GRCh37Chr 16, 67976634: 67976634
18LCATLCAT, IVS4AS, T-C, -22single nucleotide variantPathogenic

Expression for genes affiliated with Fish-Eye Disease

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Expression patterns in normal tissues for genes affiliated with Fish-Eye Disease

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Pathways for genes affiliated with Fish-Eye Disease

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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)37
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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Compounds related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pdpc449.7LCAT, APOA1
2torcetrapib449.7APOA1, LCAT
3plpc449.7APOA1, LCAT
4retinyl palmitate44 2410.7LCAT, APOA1
5probucol44 1110.7LCAT, APOA1
6guanidine44 24 1111.7APOA1, LCAT
7acetaldehyde28 44 2411.6LCAT, APOA1
8pravastatin44 50 28 24 1113.6LCAT, APOA1
9alpha tocopherol449.6LCAT, APOA1
10palmitate449.6APOA1, LCAT
11atorvastatin44 50 28 24 1113.6LCAT, APOA1
12simvastatin44 50 61 28 24 1114.5LCAT, APOA1
13sterol449.5LCAT, APOA1
14gemfibrozil28 44 1111.5APOA1, APOA2
15mspi449.5APOA2, APOA1
16vitamin a44 24 1111.4LCAT, APOA1
17fenofibrate44 50 1111.4APOA2, APOA1
18lecithin449.4LCAT, APOA2
19ascorbic acid44 2410.4APOA1, LCAT
20methionine449.0LCAT, APOA2
21fibrinogen449.0APOA2, APOA1
22fatty acid449.0LCAT, APOA2
23p-opc448.9LCAT, APOA2, APOA1
24dimyristoylphosphatidylcholine448.9APOA1, APOA2, LCAT
25intralipid448.9LCAT, APOA2, APOA1
26cholesterol ester448.9APOA1, APOA2, LCAT
27bezafibrate44 28 1110.9LCAT, APOA2, APOA1
28triacylglycerol448.9APOA1, APOA2, LCAT
29phosphatidylcholine448.9LCAT, APOA2, APOA1
30phospholipid448.9APOA1, APOA2, LCAT
31cholesterol44 28 24 1111.8LCAT, APOA2, APOA1
32estrogen448.8APOA1, APOA2, LCAT
33glutamine448.7LCAT, APOA2
34lipid448.7APOA1, APOA2, LCAT
35serine448.7APOA1, APOA2, LCAT

GO Terms for genes affiliated with Fish-Eye Disease

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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

Sources for Fish-Eye Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet