MCID: FSH001
MIFTS: 54

Fish-Eye Disease malady

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

Summaries for Fish-Eye Disease

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Genetics Home Reference:23 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 hypoalphalipoproteinemia and tangier disease, and has symptoms including abnormality of lipid metabolism, opacification of the corneal stroma and coronary artery disease. 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 lecithin?cholesterol acyltransferase... more...

Description from OMIM:47 136120

Aliases & Classifications for Fish-Eye Disease

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Fish-Eye Disease, Aliases & Descriptions:

Name: Fish-Eye Disease 47 11 43 23 45 49 24 62
Dyslipoproteinemic Corneal Dystrophy 43 23 62
Partial Lcat Deficiency 43 23 49
Alpha-Lcat Deficiency 43 23 62
Fed 43 23 49
Lcata Deficiency 43 23
 
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 23
Alpha-Lecithin-Cholesterol Acyltransferase Deficiency 62
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 43
Lecithin Cholesterol Acyltransferase Deficiency 62
Lcat Deficiency 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
fish-eye disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

OMIM47 136120
Orphanet49 79292
ICD10 via Orphanet28 E78.6
UMLS via Orphanet63 C0342895
MESH via Orphanet36 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 all 36)
idRelated DiseaseScoreTop Affiliating Genes
1hypoalphalipoproteinemia30.3LCAT, APOA1, APOA2
2tangier disease30.3APOA2, APOA1, LCAT
3norum disease30.0LCAT, APOA1, APOA2
4eye disease10.9
5arcus senilis10.0APOA1, LCAT
6secondary amyloidosis10.0APOA1, LCAT
7hypobetalipoproteinemia10.0APOA1, LCAT
8abetalipoproteinemia10.0APOA1, LCAT
9alagille syndrome10.0LCAT, APOA1
10hypercholesterolemia, familial10.0APOA1, LCAT
11nephrotic syndrome10.0LCAT, APOA1
12fatty liver disease10.0APOA1, LCAT
13kidney disease10.0APOA1, LCAT
14amyloidosis, familial visceral10.0APOA2, APOA1
15acute myocardial infarction10.0APOA1, LCAT
16hypertriglyceridemia10.0APOA2, APOA1
17hypertension, essential10.0LCAT, APOA1
18diabetes mellitus, insulin-dependent10.0APOA1, LCAT
19amyloidosis10.0APOA1, APOA2
20metabolic syndrome x10.0APOA1, LCAT
21hepatoblastoma10.0APOA2, APOA1
22vascular disease10.0APOA1, LCAT
23primary hyperoxaluria10.0LCAT, APOA1
24chronic kidney failure10.0LCAT, APOA1
25galactosemia10.0LCAT, APOA1
26hyperalphalipoproteinemia10.0APOA2, APOA1, LCAT
27hyperlipidemia, familial combined10.0LCAT, APOA2, APOA1
28lipid metabolism disorder10.0APOA2, LCAT, APOA1
29familial hyperlipidemia10.0LCAT, APOA1, APOA2
30hyperinsulinism10.0LCAT, APOA2, APOA1
31proteinuria10.0APOA1, APOA2, LCAT
32coronary artery disease10.0APOA1, LCAT, APOA2
33myocardial infarction10.0APOA1, LCAT, APOA2
34diabetes mellitus, noninsulin-dependent10.0APOA1, APOA2, LCAT
35obesity10.0APOA2, APOA1, LCAT
36atherosclerosis10.0LCAT, APOA2, APOA1

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

Symptoms:

 49 (show all 8)
  • corneal clouding/opacity/vascularisation
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • autosomal recessive inheritance
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • angor pectoris/myocardial infarction
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • lymphadenopathy/polyadenopathies

HPO human phenotypes related to Fish-Eye Disease:

(show all 12)
id Description Frequency HPO Source Accession
1 abnormality of lipid metabolism hallmark (90%) HP:0003119
2 opacification of the corneal stroma hallmark (90%) HP:0007759
3 coronary artery disease occasional (7.5%) HP:0001677
4 splenomegaly occasional (7.5%) HP:0001744
5 hepatomegaly occasional (7.5%) HP:0002240
6 lymphadenopathy occasional (7.5%) HP:0002716
7 autosomal recessive inheritance HP:0000007
8 hypertriglyceridemia HP:0002155
9 hyperbetalipoproteinemia HP:0003141
10 hypoalphalipoproteinemia HP:0003233
11 increased circulating very-low-density lipoprotein cholesterol HP:0003362
12 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 Disease24

Anatomical Context for Fish-Eye Disease

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MalaCards organs/tissues related to Fish-Eye Disease:

33
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
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
Plasma lipid transfer in fish-eye disease. (6613682)
1983
45
Studies on high density lipoproteins in fish eye disease. (6846063)
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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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:

7
id Gene Variation 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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Search GEO for disease gene expression data for Fish-Eye Disease.

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)38
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
1pdpc459.7LCAT, APOA1
2torcetrapib459.7APOA1, LCAT
3plpc459.7LCAT, APOA1
4retinyl palmitate45 2610.7LCAT, APOA1
5probucol45 1310.7LCAT, APOA1
6guanidine45 26 1311.7APOA1, LCAT
7acetaldehyde30 45 2611.6LCAT, APOA1
8pravastatin45 51 30 26 1313.6APOA1, LCAT
9alpha tocopherol459.6APOA1, LCAT
10palmitate459.6LCAT, APOA1
11atorvastatin45 51 30 26 1313.6APOA1, LCAT
12simvastatin45 51 61 30 26 1314.5LCAT, APOA1
13sterol459.5LCAT, APOA1
14gemfibrozil30 45 1311.5APOA1, APOA2
15mspi459.5APOA2, APOA1
16vitamin a45 26 1311.4APOA1, LCAT
17fenofibrate45 51 1311.4APOA2, APOA1
18lecithin459.4LCAT, APOA2
19ascorbic acid45 2610.4LCAT, APOA1
20methionine459.0LCAT, APOA2
21fibrinogen459.0APOA1, APOA2
22fatty acid459.0LCAT, APOA2
23p-opc458.9APOA1, APOA2, LCAT
24dimyristoylphosphatidylcholine458.9APOA2, APOA1, LCAT
25intralipid458.9APOA1, APOA2, LCAT
26cholesterol ester458.9APOA2, LCAT, APOA1
27bezafibrate45 30 1310.9APOA1, APOA2, LCAT
28triacylglycerol458.9APOA2, LCAT, APOA1
29phosphatidylcholine458.9APOA1, APOA2, LCAT
30phospholipid458.9APOA2, LCAT, APOA1
31cholesterol45 30 26 1311.8LCAT, APOA1, APOA2
32estrogen458.8LCAT, APOA2, APOA1
33glutamine458.7LCAT, APOA2
34lipid458.7APOA2, LCAT, APOA1
35serine458.7APOA1, LCAT, APOA2

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:00343669.2APOA2, APOA1
2very-low-density lipoprotein particleGO:00343619.2APOA2, APOA1
3blood microparticleGO:00725629.1APOA1, APOA2
4endoplasmic reticulum lumenGO:00057889.1APOA2, APOA1
5early endosomeGO:00057699.0APOA2, APOA1
6high-density lipoprotein particleGO:00343648.7LCAT, APOA2, APOA1
7extracellular regionGO:00055768.2LCAT, APOA2, APOA1

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:00421589.6APOA1, LCAT
2cholesterol transportGO:00303019.5LCAT, APOA1
3negative regulation of lipase activityGO:00601929.5APOA1, APOA2
4negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.5APOA1, APOA2
5regulation of intestinal cholesterol absorptionGO:00303009.5APOA2, APOA1
6high-density lipoprotein particle assemblyGO:00343809.4APOA1, APOA2
7protein oxidationGO:00181589.4APOA1, APOA2
8negative regulation of cytokine secretion involved in immune responseGO:00027409.4APOA1, APOA2
9high-density lipoprotein particle clearanceGO:00343849.4APOA1, APOA2
10peptidyl-methionine modificationGO:00182069.4APOA1, APOA2
11positive regulation of cholesterol esterificationGO:00108739.4APOA2, APOA1
12phospholipid effluxGO:00337009.4APOA2, APOA1
13cholesterol effluxGO:00333449.3APOA1, APOA2
14organ regenerationGO:00311009.3APOA2, APOA1
15retinoid metabolic processGO:00015239.2APOA2, APOA1
16response to estrogenGO:00436279.2APOA2, APOA1
17phototransduction, visible lightGO:00076039.1APOA1, APOA2
18response to drugGO:00424939.1APOA2, APOA1
19high-density lipoprotein particle remodelingGO:00343758.9LCAT, APOA2, APOA1
20reverse cholesterol transportGO:00436918.9LCAT, APOA2, APOA1
21phosphatidylcholine biosynthetic processGO:00066568.9APOA1, APOA2, LCAT
22lipoprotein metabolic processGO:00421578.9LCAT, APOA2, APOA1
23cholesterol homeostasisGO:00426328.9APOA1, APOA2, LCAT
24cholesterol metabolic processGO:00082038.9LCAT, APOA2, APOA1
25cellular lipid metabolic processGO:00442558.8APOA2, APOA1
26small molecule metabolic processGO:00442818.4LCAT, APOA2, APOA1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:00341909.3APOA2, APOA1
2high-density lipoprotein particle receptor bindingGO:00706539.3APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.2APOA2, APOA1
4lipase inhibitor activityGO:00551029.2APOA2, APOA1
5high-density lipoprotein particle bindingGO:00080359.1APOA1, APOA2
6phospholipid bindingGO:00055439.1APOA2, APOA1
7cholesterol transporter activityGO:00171279.0APOA2, APOA1
8cholesterol bindingGO:00154858.8APOA2, APOA1

Products for genes affiliated with Fish-Eye Disease

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Sources for Fish-Eye Disease

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet