MCID: FSH001
MIFTS: 45

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fish-Eye Disease:

Name: Fish-Eye Disease 49 11 45 23 47 51 67 24 65
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

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

HPO:

61
fish-eye disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 136120
Orphanet51 79292
MESH via Orphanet37 C538467
UMLS via Orphanet66 C0342895
ICD10 via Orphanet28 E78.6
MedGen34 C0342895
MeSH36 D007863
UMLS65 C0342895

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 coronary artery disease and norum disease, and has symptoms including opacification of the corneal stroma, lymphadenopathy and hepatomegaly. 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, liver and t cells.

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').

Wikipedia:68 Fish-eye disease is a genetic disorder involving a deficiency in lecithin—cholesterol acyltransferase... more...

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

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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Anatomical Context for Fish-Eye Disease

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MalaCards organs/tissues related to Fish-Eye Disease:

33
Eye, Liver, T cells, Heart, Lung, Cervix, Pituitary

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 52)
idTitleAuthorsYear
1
Cardioprotection of vitexin on myocardial ischemia/reperfusion injury in rat via regulating inflammatory cytokines and MAPK pathway. (24228599)
2013
2
Overexpression of GATA1 confers resistance to chemotherapy in acute megakaryocytic Leukemia. (23874683)
2013
3
Increased Th17 cells and interleukin-17 contribute to immune activation and disease aggravation in patients with chronic hepatitis B virus infection. (23237940)
2013
4
Small fibre pathology in patients with fibromyalgia syndrome. (23474848)
2013
5
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. (23759947)
2013
6
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. (22763152)
2013
7
MRI of diffuse liver disease: the common and uncommon etiologies. (23921268)
2013
8
Long-term Outcomes and Role of Chemotherapy in Adults With Newly Diagnosed Medulloblastoma. (23111362)
2012
9
Manual microdissection technique in a case of subcutaneous panniculitis-like T-cell lymphoma: a case report and review. (22612348)
2012
10
Increased miR-708 expression in NSCLC and its association with poor survival in lung adenocarcinoma from never smokers. (22573352)
2012
11
Apheresis in the treatment of idiopathic dilated cardiomyopathy. (22811302)
2012
12
Potential therapeutic significance of HER-family in esophageal squamous cell carcinoma. (23232268)
2012
13
Sputum colour and bacteria in chronic bronchitis exacerbations: a pooled analysis. (22034649)
2012
14
Association of prion protein expression with pancreatic adenocarcinoma survival in the SEER residual tissue repository. (22820080)
2011-2012
15
Intussusception: postreduction fasting is not necessary to prevent complications and recurrences in the emergency department observation unit. (21960089)
2011
16
A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice. (20472886)
2010
17
Perforated ischiogluteal bursitis mimicking a gluteal decubitus ulcer in patients with spinal cord injury: report of 2 cases. (20713843)
2010
18
Hydroa vacciniforme with mucosal involvement and recalcitrant periodontitis and multiple virus re-activators after sun-exposure. (20814626)
2010
19
Short telomeres are preferentially elongated by telomerase in human cells. (19716824)
2009
20
Changes on the physiological lactonase activity of serum paraoxonase 1 by a diet intervention for weight loss in healthy overweight and obese women. (19902024)
2009
21
The efficacy of dexamethasone treatment in massive enteric bleeding in typhoid fever. (19211432)
2009
22
Duloxetine in the treatment of generalized anxiety disorder. (20360899)
2009
23
Mesonephric adenocarcinoma of the uterine cervix: a case report with immunohistochemical and ultrastructural studies. (18374498)
2008
24
The association of chronic endometritis with preterm birth. (17403412)
2007
25
Chronic daily headache in hereditary hemochromatosis treated by venesection. (17578548)
2007
26
Fulminant pulmonary calciphylaxis and metastatic calcification causing acute respiratory failure in a uremic patient. (16564932)
2006
27
Asthma and Churg-Strauss syndrome. (17268737)
2006
28
Effect of different milking routines on milking-related release of the hormones oxytocin, prolactin and cortisol, and on milk yield and milking performance in Murrah buffaloes. (15747726)
2005
29
Use of novel monoclonal antibodies to determine the expression and distribution of the hypoxia regulatory factors PHD-1, PHD-2, PHD-3 and FIH in normal and neoplastic human tissues. (16324198)
2005
30
High-versus low-dose ACE inhibitor therapy in chronic heart failure. (15026561)
2004
31
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion. (14571278)
2003
32
Association of polyadenylation cleavage factor I with U1 snRNP. (14561889)
2003
33
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. (12598898)
2003
34
Detection of hepatic progenitor cells in patients with severe hepatitis and their distribution]. (12890338)
2003
35
Aberrant expression of T-plastin in Sezary cells. (14612505)
2003
36
Auditory ERPs reveal brain dysfunction in infants with plagiocephaly. (12140415)
2002
37
Cyr61 and CTGF are molecular markers of bladder wall remodeling after outlet obstruction. (12217894)
2002
38
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (11826022)
2002
39
Tinea barbae due to Trichophyton rubrum with possible involvement of autoinoculation. (10809886)
2000
40
A subtype of the gamma-aminobutyric acid(B) receptor regulates cholinergic twitch response in the guinea pig ileum. (10734151)
2000
41
Onychomatricoma with misleading features. (11200837)
2000
42
Genetic polymorphism of N-acetyltransferases, glutathione S-transferase M1 and NAD(P)H:quinone oxidoreductase in relation to malignant and benign pancreatic disease risk. The International Pancreatic Disease Study Group. (9696930)
1998
43
Metabolic manifestations of low-dose diuretics. (8876477)
1996
44
Pituitary adenylate cyclase activating peptide and its receptors are expressed in human neuroblastomas. (8698838)
1996
45
Variation of mouse oocyte sensitivity to griseofulvin-induced aneuploidy and meiotic delay during the first meiotic division. (8162891)
1994
46
Cross-linking Fc receptors stimulate splenic non-B, non-T cells to secrete interleukin 4 and other lymphokines. (2106135)
1990
47
Urease-negative Nocardia asteroides causing cutaneous nocardiosis. (2185267)
1990
48
Tuberculous peritonitis in pregnancy. A follow-up. (2930750)
1989
49
Adult scurvy. (7305099)
1981
50
Picture of the month. Metaphyseal chondrodysplasia, Schmid type. (7395832)
1980

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
1early endosomeGO:00057699.1APOA1, APOA2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-methionine modificationGO:00182069.8APOA1, APOA2
2positive regulation of cholesterol esterificationGO:00108739.8APOA1, APOA2
3phospholipid effluxGO:00337009.8APOA1, APOA2
4lipoprotein biosynthetic processGO:00421589.8APOA1, APOA2
5organ regenerationGO:00311009.6APOA1, APOA2
6phospholipid metabolic processGO:00066449.6APOA1, LCAT
7protein oxidationGO:00181589.6APOA1, APOA2
8cholesterol effluxGO:00333449.6APOA1, APOA2
9cholesterol transportGO:00303019.4APOA2, LCAT
10phototransduction, visible lightGO:00076039.4APOA1, APOA2
11response to estrogenGO:00436279.1APOA1, APOA2
12reverse cholesterol transportGO:00436919.1APOA1, APOA2, LCAT
13phosphatidylcholine biosynthetic processGO:00066569.0APOA1, APOA2, LCAT
14high-density lipoprotein particle remodelingGO:00343759.0APOA1, APOA2, LCAT
15response to drugGO:00424938.8APOA1, APOA2
16small molecule metabolic processGO:00442818.5APOA1, APOA2, LCAT

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle bindingGO:00080359.1APOA1, APOA2
2high-density lipoprotein particle receptor bindingGO:00706538.8APOA1, 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