FED
MCID: FSH001
MIFTS: 54

Fish-Eye Disease (FED) malady

Eye diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Fish-Eye Disease

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Fish-Eye Disease, also known as FED, is related to atherosclerosis and complete lcat deficiency, and has symptoms including hyperlipidemia/hypercholesterolemia/hypertriglyceridemia, angor pectoris/myocardial infarction and hematuria/microhematuria. An important gene associated with Fish-Eye Disease is LCAT (lecithin-cholesterol acyltransferase), and among its related pathways are Visual phototransduction and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The compounds pdpc and torcetrapib have been mentioned in the context of this disorder. Affiliated tissues include eye and liver.

Wikipedia:63 Overview of Fish Eye Disease more...

Description 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, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
lecithin-cholesterol acyltransferase 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


Aliases & Descriptions:

fish-eye disease 42 22 21 46 44 48 60
fed 42 21 48
dyslipoproteinemic corneal dystrophy 42 21
partial lcat deficiency 21 48
alpha-lcat deficiency 42 21
lcata deficiency 42 21
alpha-lecithin cholesterol acyltransferase deficiency 42
alpha-lecithin:cholesterol acyltransferase deficiency 21
lecithin-cholesterol acyltransferase deficiency 48
lecithin acyltransferase deficiency 60
lcat deficiency 48


External Ids:

SNOMED-CT via Orphanet57 238091006, 238092004
ICD10 via Orphanet26 E78.6
MESH via Orphanet35 C538467
UMLS via Orphanet61 C0342895

Related Diseases for Fish-Eye Disease

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Fish-Eye Disease:



Diseases related to fish-eye disease

Clinical Features for Fish-Eye Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

136120,245900

Clinical synopsis from OMIM:

136120

Symptoms:

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

Drugs & Therapeutics for Fish-Eye Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Fish-Eye Disease

Drug clinical trials:

Search ClinicalTrials for Fish-Eye Disease

Search NIH Clinical Center for Fish-Eye Disease

Search CenterWatch for Fish-Eye Disease

Genetic Tests for Fish-Eye Disease

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Fish-Eye Disease:

32
Eye, Liver

Animal Models for Fish-Eye Disease or affiliated genes

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Publications for Fish-Eye Disease

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Genetic Variations for Fish-Eye Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Fish-Eye Disease:

62 (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

Expression for genes affiliated with Fish-Eye Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fish-Eye Disease

Search GEO for disease gene expression data for Fish-Eye Disease.

Pathways for genes affiliated with Fish-Eye Disease

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Sources:
53Reactome, 29KEGG, 12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database
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Compounds for genes affiliated with Fish-Eye Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1pdpc449.7APOA1, LCAT
2torcetrapib449.7APOA1, LCAT
3plpc449.7APOA1, LCAT
4retinyl palmitate44 2410.7APOA1, LCAT
5probucol44 1110.7APOA1, LCAT
6guanidine44 11 2411.6APOA1, LCAT
7acetaldehyde44 28 2411.6APOA1, LCAT
8pravastatin44 49 28 11 2413.6APOA1, LCAT
9alpha tocopherol449.5LCAT, APOA1
10palmitate449.5APOA1, LCAT
11atorvastatin44 49 28 11 2413.5APOA1, LCAT
12gemfibrozil44 28 1111.4APOA1, APOA2
13mspi449.4APOA2, APOA1
14simvastatin44 49 59 28 11 2414.4LCAT, APOA1
15fenofibrate44 49 1111.4APOA2, APOA1
16lecithin449.4LCAT, APOA2
17sterol449.3APOA1, LCAT
18ascorbic acid44 2410.3APOA1, LCAT
19vitamin a44 11 2411.2APOA1, LCAT
20p-opc448.9APOA2, APOA1, LCAT
21dimyristoylphosphatidylcholine448.9LCAT, APOA1, APOA2
22intralipid448.9APOA2, APOA1, LCAT
23cholesterol ester448.9LCAT, APOA1, APOA2
24bezafibrate44 28 1110.9APOA2, APOA1, LCAT
25triacylglycerol448.9LCAT, APOA1, APOA2
26phosphatidylcholine448.9APOA2, APOA1, LCAT
27phospholipid448.8APOA2, APOA1, LCAT
28cholesterol44 28 11 2411.8LCAT, APOA1, APOA2
29estrogen448.7APOA2, APOA1, LCAT
30lipid448.6APOA2, APOA1, LCAT
31serine448.2LCAT, APOA1, APOA2

GO Terms for genes affiliated with Fish-Eye Disease

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Sources:
16Gene Ontology
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Cellular components related to Fish-Eye Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:0343669.2APOA1, APOA2
2very-low-density lipoprotein particleGO:0343619.1APOA1, APOA2
3early endosomeGO:0057699.0APOA1, APOA2
4endoplasmic reticulum lumenGO:0057888.8APOA1, APOA2
5high-density lipoprotein particleGO:0343648.6LCAT, APOA1, APOA2
6extracellular regionGO:0055768.5LCAT, APOA1, APOA2

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:0421589.6LCAT, APOA1
2cholesterol transportGO:0303019.5APOA1, LCAT
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
15response to estrogen stimulusGO:0436279.2APOA2, APOA1
16retinoid metabolic processGO:0015239.2APOA2, APOA1
17phototransduction, visible lightGO:0076039.1APOA1, APOA2
18response to drugGO:0424939.1APOA2, APOA1
19cellular lipid metabolic processGO:0442559.0APOA2, APOA1
20high-density lipoprotein particle remodelingGO:0343758.9APOA2, APOA1, LCAT
21reverse cholesterol transportGO:0436918.9APOA2, APOA1, LCAT
22phosphatidylcholine biosynthetic processGO:0066568.9LCAT, APOA1, APOA2
23lipoprotein metabolic processGO:0421578.9APOA2, APOA1, LCAT
24cholesterol homeostasisGO:0426328.9LCAT, APOA1, APOA2
25cholesterol metabolic processGO:0082038.9APOA2, APOA1, LCAT
26small molecule metabolic processGO:0442818.2APOA2, APOA1, LCAT

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:0341909.3APOA2, APOA1
2high-density lipoprotein particle receptor bindingGO:0706539.2APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.2APOA1, APOA2
4lipase inhibitor activityGO:0551029.1APOA1, APOA2
5cholesterol bindingGO:0154859.1APOA2, APOA1
6high-density lipoprotein particle bindingGO:0080359.0APOA2, APOA1
7cholesterol transporter activityGO:0171278.8APOA2, APOA1

Products for genes affiliated with Fish-Eye Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet