MCID: FSH001
MIFTS: 44

Fish-Eye Disease malady

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

Aliases & Classifications for Fish-Eye Disease

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Fish-Eye Disease:

Name: Fish-Eye Disease 49 11 45 23 47 51 24 65 67
Fed 45 23 51 67
Dyslipoproteinemic Corneal Dystrophy 45 23 67
Alpha-Lcat Deficiency 45 23 67
Partial Lcat Deficiency 23 51
 
Lcata Deficiency 45 23
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 45
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 23
Lecithin Acyltransferase Deficiency 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
fish-eye disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

OMIM49 136120
Orphanet51 79292
ICD10 via Orphanet28 E78.6
MESH via Orphanet37 C538467
UMLS via Orphanet66 C0342895
MedGen34 C0342895
MeSH36 D007863

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 fed, is related to hypoalphalipoproteinemia and tangier disease, and has symptoms including opacification of the corneal stroma, coronary artery disease and splenomegaly. An important gene associated with Fish-Eye Disease is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways are Visual phototransduction and PPAR signaling pathway. Affiliated tissues include eye, liver and adipocyte.

UniProtKB/Swiss-Prot:67 Fish-eye disease: A disorder of lipoprotein metabolism due to partial lecithin- cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye').

Description from OMIM:49 136120

Related Diseases for Fish-Eye Disease

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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:

 51 (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 11)
id Description Frequency HPO Source Accession
1 opacification of the corneal stroma hallmark (90%) HP:0007759
2 coronary artery disease occasional (7.5%) HP:0001677
3 splenomegaly occasional (7.5%) HP:0001744
4 hepatomegaly occasional (7.5%) HP:0002240
5 lymphadenopathy occasional (7.5%) HP:0002716
6 autosomal recessive inheritance HP:0000007
7 hypertriglyceridemia HP:0002155
8 hyperbetalipoproteinemia HP:0003141
9 hypoalphalipoproteinemia HP:0003233
10 increased circulating very-low-density lipoprotein cholesterol HP:0003362
11 opacification of the corneal stroma HP:0007759

Drugs & Therapeutics for Fish-Eye Disease

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Interventional clinical trials:

Search ClinicalTrials, 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
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
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:

67 (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:

5
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
6LCATNM_000229.1(LCAT): c.524-22T> Csingle nucleotide variantPathogenicrs794726664GRCh38Chr 16, 67942609: 67942609

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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GO Terms for genes affiliated with Fish-Eye Disease

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Cellular components related to Fish-Eye Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.8APOA1, APOA2
2chylomicronGO:00426279.8APOA1, APOA2
3very-low-density lipoprotein particleGO:00343619.8APOA1, APOA2
4blood microparticleGO:00725629.7APOA1, APOA2
5early endosomeGO:00057699.4APOA1, APOA2
6high-density lipoprotein particleGO:00343649.1APOA1, APOA2, LCAT
7endoplasmic reticulum lumenGO:00057889.0APOA1, APOA2
8extracellular spaceGO:00056158.5APOA1, APOA2, LCAT
9extracellular regionGO:00055768.2APOA1, APOA2, LCAT

Biological processes related to Fish-Eye Disease according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:004215810.1APOA1, LCAT
2very-low-density lipoprotein particle remodelingGO:003437210.0APOA1, LCAT
3negative regulation of cytokine secretion involved in immune responseGO:00027409.7APOA1, APOA2
4positive regulation of cholesterol esterificationGO:00108739.7APOA1, APOA2
5peptidyl-methionine modificationGO:00182069.7APOA1, APOA2
6regulation of intestinal cholesterol absorptionGO:00303009.7APOA1, APOA2
7high-density lipoprotein particle assemblyGO:00343809.7APOA1, APOA2
8high-density lipoprotein particle clearanceGO:00343849.7APOA1, APOA2
9negative regulation of lipase activityGO:00601929.7APOA1, APOA2
10protein oxidationGO:00181589.7APOA1, APOA2
11negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.7APOA1, APOA2
12cholesterol effluxGO:00333449.7APOA1, APOA2
13phospholipid effluxGO:00337009.7APOA1, APOA2
14phospholipid metabolic processGO:00066449.7APOA1, LCAT
15lipid transportGO:00068699.6APOA1, APOA2
16response to glucocorticoidGO:00513849.5APOA2, LCAT
17cellular lipid metabolic processGO:00442559.5APOA1, APOA2
18organ regenerationGO:00311009.4APOA1, APOA2
19retinoid metabolic processGO:00015239.4APOA1, APOA2
20phototransduction, visible lightGO:00076039.4APOA1, APOA2
21response to estrogenGO:00436279.2APOA1, APOA2
22high-density lipoprotein particle remodelingGO:00343759.1APOA1, APOA2, LCAT
23reverse cholesterol transportGO:00436919.1APOA1, APOA2, LCAT
24lipoprotein metabolic processGO:00421579.1APOA1, APOA2, LCAT
25cholesterol homeostasisGO:00426329.0APOA1, APOA2, LCAT
26cholesterol transportGO:00303019.0APOA1, APOA2, LCAT
27phosphatidylcholine biosynthetic processGO:00066569.0APOA1, APOA2, LCAT
28cholesterol metabolic processGO:00082038.8APOA1, APOA2, LCAT
29small molecule metabolic processGO:00442818.5APOA1, APOA2, LCAT

Molecular functions related to Fish-Eye Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.6APOA1, APOA2
2apolipoprotein receptor bindingGO:00341909.5APOA1, APOA2
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.5APOA1, APOA2
4lipase inhibitor activityGO:00551029.5APOA1, APOA2
5high-density lipoprotein particle receptor bindingGO:00706539.5APOA1, APOA2
6cholesterol bindingGO:00154859.5APOA1, APOA2
7lipid transporter activityGO:00053199.4APOA1, APOA2
8high-density lipoprotein particle bindingGO:00080359.3APOA1, APOA2
9phosphatidylcholine bindingGO:00312109.2APOA1, APOA2
10lipid bindingGO:00082899.1APOA1, APOA2
11phospholipid bindingGO:00055439.0APOA1, APOA2

Sources for Fish-Eye Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet