FED
MCID: FSH001
MIFTS: 41

Fish-Eye Disease (FED) malady

Eye, Nephrological, Metabolic, Endocrine categories

Summaries for Fish-Eye Disease

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 insulin resistance, and has symptoms including autosomal recessive inheritance, autosomal recessive inheritance and chronic arterial hypertension. 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.

Wikipedia:64 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism. more...

Description from OMIM:47 136120,245900

Aliases & Classifications for Fish-Eye Disease

Sources:
61UMLS, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Nephrological, Metabolic, Endocrine


Characteristics (Orphanet epidemiological data):

49
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 43 22 21 47 45 49 61
fed 43 21 49
dyslipoproteinemic corneal dystrophy 43 21
partial lcat deficiency 21 49
alpha-lcat deficiency 43 21
lcata deficiency 43 21
alpha-lecithin:cholesterol acyltransferase deficiency 21
alpha-lecithin cholesterol acyltransferase deficiency 43
lecithin-cholesterol acyltransferase deficiency 49
lecithin acyltransferase deficiency 61
lcat deficiency 49


External Ids:

ICD10 via Orphanet26 E78.6
MESH via Orphanet36 C538467
SNOMED-CT via Orphanet58 238092004
UMLS via Orphanet62 C0342895

Related Diseases for Fish-Eye Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 167)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.9APOA2, APOA1, LCAT
2insulin resistance30.8LCAT, APOA2, APOA1
3complete lcat deficiency30.6LCAT, APOA2, APOA1
4hypobetalipoproteinemia30.5LCAT, APOA1
5norum disease30.3APOA1, LCAT, APOA2
6hypoalphalipoproteinemia30.3APOA1, LCAT, APOA2
7tangier disease30.3LCAT, APOA1, APOA2
8hypertriglyceridemia30.3APOA1, LCAT, APOA2
9fatty liver disease30.2APOA1, LCAT
10hypercholesterolemia30.2LCAT, APOA1, APOA2
11vascular disease30.0APOA1, LCAT
12hyperinsulinism29.7APOA2, APOA1, LCAT
13lip disease10.7
14corneal disease10.5
15glucose intolerance10.5
16aortic atherosclerosis10.5
17acute pancreatitis10.4
18membranoproliferative glomerulonephritis10.4
19bloom syndrome10.4
20hepatitis d10.4
21alcoholic hepatitis10.4
22apo a-i deficiency10.4
23kid syndrome10.4
24nephrocalcinosis10.4
25acrodermatitis10.3
26nonalcoholic steatohepatitis10.3
27acrodermatitis enteropathica10.3
28enteropathica10.3
29rickets10.2
30trichinosis10.2
31granulocytopenia10.2
32rhinotracheitis10.1
33atopic dermatitis10.1
34n syndrome10.1
35aspiration pneumonia10.1
36deficiency anemia10.1
37kwashiorkor10.1
38arteriovenous malformation10.1
39steatitis10.1
40sarcocystosis10.1
41arteriosclerosis10.1
42pyridoxine deficiency10.1
43familial nephrotic syndrome10.0
44balkan nephropathy10.0
45lipoprotein lipase deficiency10.0
46acute diarrhea10.0
47favism10.0
48hypophosphatemia10.0
49keratomalacia10.0
50pancytopenia10.0

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



Diseases related to fish-eye disease

Clinical Features for Fish-Eye Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

136120,245900

Clinical synopsis from OMIM:

136120

Symptoms:

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

Drugs & Therapeutics for Fish-Eye Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Fish-Eye Disease:

id Genetic test Affiliating Genes
1 Fish-eye Disease22

Anatomical Context for Fish-Eye Disease

Animal Models for Fish-Eye Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Fish-Eye Disease

Genetic Variations for Fish-Eye Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fish-Eye Disease:

63 (show all 12)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Fish-Eye Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Fish-Eye Disease according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1pdpc459.7APOA1, LCAT
2torcetrapib459.7APOA1, LCAT
3plpc459.7APOA1, LCAT
4retinyl palmitate45 2410.7APOA1, LCAT
5probucol45 1110.7APOA1, LCAT
6guanidine45 11 2411.6APOA1, LCAT
7acetaldehyde45 29 2411.6APOA1, LCAT
8pravastatin45 50 29 11 2413.6APOA1, LCAT
9alpha tocopherol459.5LCAT, APOA1
10palmitate459.5APOA1, LCAT
11atorvastatin45 50 29 11 2413.5APOA1, LCAT
12gemfibrozil45 29 1111.4APOA1, APOA2
13mspi459.4APOA2, APOA1
14simvastatin45 50 60 29 11 2414.4LCAT, APOA1
15fenofibrate45 50 1111.4APOA2, APOA1
16lecithin459.4LCAT, APOA2
17sterol459.3APOA1, LCAT
18ascorbic acid45 2410.3APOA1, LCAT
19vitamin a45 11 2411.2APOA1, LCAT
20p-opc458.9APOA2, APOA1, LCAT
21dimyristoylphosphatidylcholine458.9LCAT, APOA1, APOA2
22intralipid458.9APOA2, APOA1, LCAT
23cholesterol ester458.9LCAT, APOA1, APOA2
24bezafibrate45 29 1110.9APOA2, APOA1, LCAT
25triacylglycerol458.9LCAT, APOA1, APOA2
26phosphatidylcholine458.9APOA2, APOA1, LCAT
27phospholipid458.8APOA2, APOA1, LCAT
28cholesterol45 29 11 2411.8LCAT, APOA1, APOA2
29estrogen458.7APOA2, APOA1, LCAT
30lipid458.6APOA2, APOA1, LCAT
31serine458.2LCAT, APOA1, APOA2

GO Terms for genes affiliated with Fish-Eye Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Fish-Eye Disease according to GeneCards/GeneDecks:

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fish-Eye Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet