MCID: FSH001
MIFTS: 44

Fish-Eye Disease malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Fish-Eye Disease

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Sources:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fish-Eye Disease:

Name: Fish-Eye Disease 50 46 24 52 68 25 12 48 66
Fed 46 24 52 68
Dyslipoproteinemic Corneal Dystrophy 46 24 68
Alpha-Lcat Deficiency 46 24 68
Partial Lcat Deficiency 24 52
 
Lcata Deficiency 46 24
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 46
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 24
Lecithin Acyltransferase Deficiency 66

Characteristics:

Orphanet epidemiological data:

52
fish-eye disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

62
fish-eye disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 136120
Orphanet52 ORPHA79292
MESH via Orphanet38 C538467
UMLS via Orphanet67 C0342895
ICD10 via Orphanet29 E78.6
MedGen35 C0342895
MeSH37 D007863

Summaries for Fish-Eye Disease

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Genetics Home Reference:24 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 norum disease and eye 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 Metabolism of fat-soluble vitamins and PPAR signaling pathway. Affiliated tissues include eye and adipocyte.

UniProtKB/Swiss-Prot:68 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').

Wikipedia:69 Fish-eye disease is a genetic disorder involving a deficiency in lecithin—cholesterol acyltransferase... more...

Description from OMIM:50 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:

 52 (show all 8)
  • visual impairment
  • angina pectoris
  • splenomegaly
  • hepatomegaly
  • atherosclerosis
  • lymphadenopathy
  • hypoalphalipoproteinemia
  • corneal opacity

HPO human phenotypes related to Fish-Eye Disease:

(show all 10)
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 hypertriglyceridemia HP:0002155
7 hyperbetalipoproteinemia HP:0003141
8 hypoalphalipoproteinemia HP:0003233
9 increased circulating very-low-density lipoprotein cholesterol HP:0003362
10 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 Disease25

Anatomical Context for Fish-Eye Disease

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MalaCards organs/tissues related to Fish-Eye Disease:

34
Eye, 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 55)
idTitleAuthorsYear
1
Secret in the eyes - fish eye disease. (27512314)
2016
2
Fish-eye disease: Another under-recognized cause of familial corneal opacification. (26854387)
2016
3
Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family. (26664212)
2015
4
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. (24636183)
2014
5
Clinical and histopathological features of a suspected case of fish-eye disease. (22855019)
2012
6
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
7
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
8
Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase. (16780378)
2006
9
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. (15115696)
2004
10
Gene symbol: LCAT. Disease: Fish eye disease. (15678588)
2004
11
Corneal opacifications in a low high density lipoprotein syndrome: suspicion of fish eye disease: a case report. (12455137)
2001
12
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. (10787436)
2000
13
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
14
Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. (9645018)
1998
15
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
16
Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. (9160810)
1997
17
Two novel molecular defects in the LCAT gene are associated with fish eye disease. (8620346)
1996
18
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. (8820100)
1996
19
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). (8755645)
1996
20
A unique genetic and biochemical presentation of fish-eye disease. (8675648)
1995
21
Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. (7602789)
1995
22
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
23
Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. (8221181)
1993
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
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. (1588268)
1992
26
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. (1424675)
1992
27
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
28
Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase. (3374277)
1988
29
Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease. (3410011)
1988
30
Familial LCAT deficiency and fish-eye disease. (3141686)
1988
31
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. (3600207)
1987
32
Low A-esterase activity in serum of patients with fish-eye disease. (3030583)
1987
33
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
34
Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. (3630774)
1987
35
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
36
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
37
Hypoalphalipoproteinemia resembling fish eye disease. (3591467)
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
Electron microscopic structure of serum lipoproteins from patients with fish eye disease. (6704050)
1984
44
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
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
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:

68 (show all 12)
id Symbol AA change Variation ID SNP ID
1LCATp.Pro34LeuVAR_004252rs121908051
2LCATp.Thr147IleVAR_004256rs121908050
3LCATp.Met276LysVAR_004264rs121908054
4LCATp.Thr371MetVAR_004267rs121908053
5LCATp.Pro34GlnVAR_039021
6LCATp.Val70GluVAR_039023rs748427834
7LCATp.Arg123CysVAR_039026rs140068549
8LCATp.Arg159GlnVAR_039027rs768017317
9LCATp.Thr298AlaVAR_039033
10LCATp.Trp99SerVAR_066862
11LCATp.Leu338PheVAR_066867
12LCATp.Arg347CysVAR_066868rs202017590

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
1chylomicronGO:00426279.8APOA1, APOA2
2very-low-density lipoprotein particleGO:00343619.8APOA1, APOA2
3spherical high-density lipoprotein particleGO:00343669.7APOA1, APOA2
4early endosomeGO:00057699.5APOA1, APOA2
5endoplasmic reticulum lumenGO:00057889.3APOA1, APOA2
6blood microparticleGO:00725629.2APOA1, APOA2
7high-density lipoprotein particleGO:00343649.2APOA1, APOA2, LCAT
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 24)
idNameGO IDScoreTop Affiliating Genes
1protein oxidationGO:00181589.7APOA1, APOA2
2peptidyl-methionine modificationGO:00182069.7APOA1, APOA2
3negative regulation of lipase activityGO:00601929.7APOA1, APOA2
4regulation of intestinal cholesterol absorptionGO:00303009.7APOA1, APOA2
5negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.7APOA1, APOA2
6phospholipid metabolic processGO:00066449.7APOA1, LCAT
7positive regulation of cholesterol esterificationGO:00108739.7APOA1, APOA2
8phospholipid effluxGO:00337009.7APOA1, APOA2
9high-density lipoprotein particle clearanceGO:00343849.7APOA1, APOA2
10high-density lipoprotein particle assemblyGO:00343809.7APOA1, APOA2
11negative regulation of cytokine secretion involved in immune responseGO:00027409.7APOA1, APOA2
12cholesterol effluxGO:00333449.6APOA1, APOA2
13response to glucocorticoidGO:00513849.4APOA2, LCAT
14animal organ regenerationGO:00311009.1APOA1, APOA2
15response to estrogenGO:00436279.1APOA1, APOA2
16lipoprotein biosynthetic processGO:00421589.1APOA1, APOA2, LCAT
17retinoid metabolic processGO:00015239.0APOA1, APOA2
18high-density lipoprotein particle remodelingGO:00343758.9APOA1, APOA2, LCAT
19cholesterol transportGO:00303018.9APOA1, APOA2, LCAT
20phosphatidylcholine biosynthetic processGO:00066568.9APOA1, APOA2, LCAT
21reverse cholesterol transportGO:00436918.9APOA1, APOA2, LCAT
22lipoprotein metabolic processGO:00421578.8APOA1, APOA2, LCAT
23cholesterol homeostasisGO:00426328.6APOA1, APOA2, LCAT
24cholesterol metabolic processGO:00082038.6APOA1, APOA2, LCAT

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:00341909.7APOA1, APOA2
2high-density lipoprotein particle receptor bindingGO:00706539.6APOA1, APOA2
3lipase inhibitor activityGO:00551029.6APOA1, APOA2
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.6APOA1, APOA2
5high-density lipoprotein particle bindingGO:00080359.5APOA1, APOA2
6lipid transporter activityGO:00053199.5APOA1, APOA2
7cholesterol transporter activityGO:00171279.5APOA1, APOA2
8cholesterol bindingGO:00154859.5APOA1, APOA2
9phosphatidylcholine bindingGO:00312109.5APOA1, APOA2
10phospholipid bindingGO:00055439.1APOA1, APOA2
11lipid bindingGO:00082899.1APOA1, APOA2

Sources for Fish-Eye Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet