FED
MCID: FSH001
MIFTS: 43

Fish-Eye Disease (FED) 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:
12diseasecard, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Fish-Eye Disease:

Name: Fish-Eye Disease 52 48 25 54 70 27 12 50 68
Fed 48 25 54 70
Dyslipoproteinemic Corneal Dystrophy 48 25 70
Partial Lcat Deficiency 48 25 54
Alpha-Lcat Deficiency 48 25 70
 
Lcata Deficiency 48 25
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 25
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 48
Lecithin Acyltransferase Deficiency 68

Characteristics:

Orphanet epidemiological data:

54
fish-eye disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

64
fish-eye disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 136120
Orphanet54 ORPHA79292
MESH via Orphanet40 C538467
UMLS via Orphanet69 C0342895
ICD10 via Orphanet31 E78.6
MedGen37 C0342895
MeSH39 D007863

Summaries for Fish-Eye Disease

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Genetics Home Reference:25 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 familial lcat deficiency, and has symptoms including Array, Array and Array. An important gene associated with Fish-Eye Disease is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways are PPAR Alpha Pathway and Metabolism of fat-soluble vitamins. Affiliated tissues include eye and adipocyte.

UniProtKB/Swiss-Prot:70 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:71 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

Description from OMIM:52 136120

Related Diseases for Fish-Eye Disease

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Diseases related to Fish-Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1norum disease11.7
2familial lcat deficiency11.2
3eye disease10.6
4arena syndrome10.0APOA1, LCAT
5anaplastic ganglioglioma10.0APOA1, LCAT
6chondrocalcinosis with early-onset osteoarthritis10.0APOA1, LCAT
7fetal warfarin syndrome10.0APOA1, LCAT
8mannosidosis, beta10.0APOA1, LCAT
9dyserythropoietic anemia, congenital, type ii10.0APOA1, LCAT
10albinism, oculocutaneous, type v10.0APOA1, APOA2
11hereditary lymphedema type ii9.9APOA1, APOA2
12acute apical periodontitis9.9APOA1, LCAT
13van maldergem syndrome 29.9APOA1, APOA2
14bleeding disorder, east texas type9.9APOA1, APOA2
15lipomatosis9.9APOA1, LCAT
16alzheimer disease 19, late onset9.9APOA2, LCAT
17tangier disease9.9
18hypoalphalipoproteinemia9.9
19pyrimidine metabolic disorder9.8APOA1, APOA2
20immunodeficiency 189.8APOA1, APOA2
21familial progressive cardiac conduction defect9.7APOA1, APOA2, LCAT
22tyrosinemia, type ii9.7APOA1, APOA2, LCAT
23bird fancier's lung9.7APOA1, APOA2, LCAT
24stone in bladder diverticulum9.7APOA1, APOA2, LCAT
25von willebrand disease, platelet-type9.7APOA1, APOA2, LCAT
26neuropathy, hereditary sensory and autonomic, type ia9.7APOA1, APOA2, LCAT
27hypertriglyceridemia9.7APOA1, APOA2, LCAT
28cataract 5, multiple types9.7APOA1, APOA2, LCAT
29thymus adenosquamous carcinoma9.7APOA1, APOA2, LCAT
30hard palate cancer9.7APOA1, APOA2
31narcolepsy 69.7APOA1, APOA2, LCAT
32macular degeneration, age-related, 129.7APOA1, APOA2, LCAT
33maturity-onset diabetes of the young 69.7APOA1, APOA2, LCAT

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



Diseases related to fish-eye disease

Symptoms & Phenotypes for Fish-Eye Disease

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Symptoms by clinical synopsis from OMIM:

136120

Clinical features from OMIM:

136120

Human phenotypes related to Fish-Eye Disease:

 54 64 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment64 54 Occasional (29-5%) HP:0000505
2 angina pectoris64 54 Occasional (29-5%) HP:0001681
3 splenomegaly64 54 Occasional (29-5%) HP:0001744
4 hepatomegaly64 54 Occasional (29-5%) HP:0002240
5 atherosclerosis54 Occasional (29-5%)
6 lymphadenopathy64 54 Occasional (29-5%) HP:0002716
7 hypoalphalipoproteinemia64 54 Very frequent (99-80%) HP:0003233
8 corneal opacity64 54 Very frequent (99-80%) HP:0007957
9 hypertriglyceridemia64 HP:0002155
10 hyperbetalipoproteinemia64 HP:0003141
11 increased circulating very-low-density lipoprotein cholesterol64 HP:0003362
12 opacification of the corneal stroma64 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 Disease27

Anatomical Context for Fish-Eye Disease

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MalaCards organs/tissues related to Fish-Eye Disease:

36
Eye, Adipocyte

Publications for Fish-Eye Disease

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Articles related to Fish-Eye Disease:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Fish-eye disease: Another under-recognized cause of familial corneal opacification. (26854387)
2016
2
Secret in the eyes - fish eye disease. (27512314)
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
Fish eye disease revealing a partial LCAT deficiency]. (15936482)
2005
10
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. (15115696)
2004
11
Gene symbol: LCAT. Disease: Fish eye disease. (15678588)
2004
12
Corneal opacifications in a low high density lipoprotein syndrome: suspicion of fish eye disease: a case report. (12455137)
2001
13
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. (10787436)
2000
14
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
15
Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. (9645018)
1998
16
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
17
Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. (9160810)
1997
18
Two novel molecular defects in the LCAT gene are associated with fish eye disease. (8620346)
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 new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. (8820100)
1996
21
Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. (7602789)
1995
22
A unique genetic and biochemical presentation of fish-eye disease. (8675648)
1995
23
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
24
Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. (8221181)
1993
25
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. (1571050)
1992
26
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. (1588268)
1992
27
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. (1424675)
1992
28
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. (1778223)
1991
29
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
30
Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase. (3374277)
1988
31
Familial LCAT deficiency and fish-eye disease. (3141686)
1988
32
Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease. (3410011)
1988
33
Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. (3630774)
1987
34
In vitro normalization of cholesteryl ester content and particle size of fish eye disease high density lipoproteins. (3591466)
1987
35
Hypoalphalipoproteinemia resembling fish eye disease. (3591467)
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
Low A-esterase activity in serum of patients with fish-eye disease. (3030583)
1987
38
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
39
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. (3600207)
1987
40
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
41
Bile acids and plasma high density lipoproteins: biliary lipid metabolism in fish eye disease. (3089811)
1986
42
Paradoxical esterification of plasma cholesterol in fish eye disease. (4025005)
1985
43
Plasma apolipoprotein pattern in fish-eye disease examined by high-resolution two-dimensional electrophoresis. (3933853)
1985
44
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
45
Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. (4061122)
1985
46
Electron microscopic structure of serum lipoproteins from patients with fish eye disease. (6704050)
1984
47
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
48
Studies of lipoprotein metabolism in a patient with fish-eye disease. (6434321)
1984
49
Studies on high density lipoproteins in fish eye disease. (6846063)
1983
50
Plasma lipid transfer in fish-eye disease. (6613682)
1983

Variations for Fish-Eye Disease

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

70 (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)SNVPathogenicrs121908050GRCh37Chr 16, 67976657: 67976657
2LCATNM_ 000229.1(LCAT): c.101C> T (p.Pro34Leu)SNVPathogenicrs121908051GRCh37Chr 16, 67977904: 67977904
3LCATNM_ 000229.1(LCAT): c.1112C> T (p.Thr371Met)SNVPathogenicrs121908053GRCh37Chr 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)SNVPathogenicrs121908057GRCh37Chr 16, 67976634: 67976634
6LCATNM_ 000229.1(LCAT): c.524-22T> CSNVPathogenicrs794726664GRCh38Chr 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.

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
1blood microparticleGO:00725629.9APOA1, APOA2
2chylomicronGO:00426279.9APOA1, APOA2
3early endosomeGO:00057699.9APOA1, APOA2
4endoplasmic reticulum lumenGO:00057889.9APOA1, APOA2
5spherical high-density lipoprotein particleGO:00343669.5APOA1, APOA2
6very-low-density lipoprotein particleGO:00343619.1APOA1, APOA2
7extracellular spaceGO:00056159.0APOA1, APOA2, LCAT
8high-density lipoprotein particleGO:00343648.9APOA1, APOA2, LCAT

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1phospholipid metabolic processGO:000664410.0APOA1, LCAT
2animal organ regenerationGO:00311009.8APOA1, APOA2
3cellular protein metabolic processGO:00442679.8APOA1, APOA2
4cholesterol effluxGO:00333449.8APOA1, APOA2
5chylomicron assemblyGO:00343789.8APOA1, APOA2
6chylomicron remodelingGO:00343719.8APOA1, APOA2
7high-density lipoprotein particle assemblyGO:00343809.8APOA1, APOA2
8high-density lipoprotein particle clearanceGO:00343849.8APOA1, APOA2
9lipid transportGO:00068699.8APOA1, APOA2
10negative regulation of cytokine secretion involved in immune responseGO:00027409.8APOA1, APOA2
11negative regulation of lipase activityGO:00601929.8APOA1, APOA2
12negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.8APOA1, APOA2
13peptidyl-methionine modificationGO:00182069.8APOA1, APOA2
14phospholipid effluxGO:00337009.8APOA1, APOA2
15positive regulation of cholesterol esterificationGO:00108739.8APOA1, APOA2
16protein oxidationGO:00181589.8APOA1, APOA2
17regulation of intestinal cholesterol absorptionGO:00303009.8APOA1, APOA2
18regulation of lipid metabolic processGO:00192169.7APOA1, APOA2
19response to estrogenGO:00436279.7APOA1, APOA2
20retinoid metabolic processGO:00015239.7APOA1, APOA2
21steroid metabolic processGO:00082029.3APOA1, LCAT
22cholesterol homeostasisGO:00426329.2APOA1, APOA2, LCAT
23cholesterol metabolic processGO:00082039.2APOA1, APOA2, LCAT
24cholesterol transportGO:00303019.2APOA1, APOA2, LCAT
25high-density lipoprotein particle remodelingGO:00343759.2APOA1, APOA2, LCAT
26lipoprotein biosynthetic processGO:00421589.2APOA1, APOA2, LCAT
27lipoprotein metabolic processGO:00421579.2APOA1, APOA2, LCAT
28phosphatidylcholine biosynthetic processGO:00066569.2APOA1, APOA2, LCAT
29reverse cholesterol transportGO:00436919.0APOA1, APOA2, LCAT

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:00341909.8APOA1, APOA2
2cholesterol bindingGO:00154859.8APOA1, APOA2
3cholesterol transporter activityGO:00171279.8APOA1, APOA2
4heat shock protein bindingGO:00310729.8APOA1, APOA2
5high-density lipoprotein particle bindingGO:00080359.8APOA1, APOA2
6high-density lipoprotein particle receptor bindingGO:00706539.8APOA1, APOA2
7lipase inhibitor activityGO:00551029.8APOA1, APOA2
8lipid bindingGO:00082899.7APOA1, APOA2
9lipid transporter activityGO:00053199.7APOA1, APOA2
10phosphatidylcholine bindingGO:00312109.6APOA1, APOA2
11phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.6APOA1, APOA2
12phospholipid bindingGO:00055439.1APOA1, APOA2

Sources for Fish-Eye Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet