MCID: FCH001
MIFTS: 49

Fuchs' Endothelial Dystrophy malady

Summaries for Fuchs' Endothelial Dystrophy

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.

MalaCards: Fuchs' Endothelial Dystrophy, also known as fuchs endothelial dystrophy, is related to corneal dystrophy and cataract. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (collagen, type VIII, alpha 2), and among its related pathways are TP53 network and Selenium Pathway. The compounds bax inhibitor peptide v5 and mim1 have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related mouse phenotypes are vision/eye and cellular.

Wikipedia:63 \'Fuchs\' dystrophy (pronounced fooks-DIS-trə-fe) also known as Fuchs\' corneal endothelial dystrophy\'... more...

Description from OMIM:46 613270,136800,613268

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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8Disease Ontology, 21Genetics Home Reference, 20GeneTests, 10DISEASES, 60UMLS, 44Novoseek, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT
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Aliases & Descriptions:

fuchs' endothelial dystrophy 8 21
fuchs endothelial dystrophy 21 10 60
fuch's endothelial corneal dystrophy 8 20
fuchs dystrophy 21 44
corneal dystrophy, fuchs' endothelial, 1 60
corneal dystrophy, fuchs endothelial 44
fuchs endothelial corneal dystrophy 21
fuch's endothelial dystrophy 8
fuchs' corneal dystrophy 8
fuchs corneal dystrophy 21
fuchs atrophy 21


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Disease Ontology8 DOID:11555
MeSH34 D005642
NCIt39 C84721

Related Diseases for Fuchs' Endothelial Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.1COL8A2, COL8A1, FBXO7, VSX1, TGFBI
2cataract30.7PRDX5, TGFBI
3keratopathy30.6FBXO7, PBK
4keratoconus30.6COL8A2, FBXO7, VSX1, TGFBI
5glaucoma30.4PITX2, VSX1
6corneal edema30.3PBK, FBXO7, VSX1
7corneal dystrophy, fuchs endothelial, 510.5
8corneal dystrophy, fuchs endothelial, 710.5
9corneal dystrophy, fuchs endothelial, 610.5
10corneal dystrophy, fuchs endothelial, 310.5
11corneal dystrophy, fuchs endothelial, 410.5
12bullous keratopathy10.4
13corneal disease10.3
14ocular hypertension10.3
15eye disease10.3
16hypertension10.3
17myotonic dystrophy10.3
18corneal dystrophy, fuchs endothelial, 810.3
19corneal granular dystrophy10.2
20blepharospasm10.2
21corneal dystrophy fuchs endothelial 110.2
22corneal dystrophy fuchs endothelial 210.2
23down syndrome10.0PRDX6
24atherosclerosis10.0CLU
25pituitary adenoma10.0PITX2
26osteosarcoma10.0BAX
27tuberculosis10.0PRDX6, PRDX5
28gastrointestinal system disease10.0BAX
29posterior polymorphous corneal dystrophy10.0VSX1, COL8A2
30lung cancer10.0BCL2
31irregular astigmatism10.0VSX1, FBXO7
32pancreatic cancer10.0PRDX5, BAX, BCL2
33melanoma10.0BCL2, BAX, PRDX5
34adenoma10.0PITX2, BAX, BCL2
35lung adenocarcinoma10.0BAX, PRDX5, BCL2, TGFBI
36ovarian cancer10.0PRDX5, BCL2, BAX, CLU
37non-small cell lung carcinoma10.0BAX, BCL2, PRDX5
38prostate cancer10.0PRDX5, BCL2, CLU, BAX
39adenocarcinoma10.0BCL2, TGFBI, CLU, PRDX6, BAX
40hepatocellular carcinoma10.0BCL2, TCF4, CLU, BAX, PRDX5
41colon cancer10.0BAX, CLU, PRDX5, BCL2, TCF4
42breast cancer10.0BCL2, BAX, CLU, PRDX5, PRDX2, PITX2
43leukemia10.0PITX2, BAX, TCF4, BCL2, TGFBI
44squamous cell carcinoma10.0TCF4, BCL2, CLU, BAX, PRDX2
45colorectal cancer10.0BAX, TGFBI, CLU, TCF4, BCL2

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to fuchs' endothelial dystrophy

Clinical Features for Fuchs' Endothelial Dystrophy

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46OMIM
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Clinical features from OMIM:

613270,136800,613268

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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

Search CenterWatch for Fuchs' Endothelial Dystrophy

Drug clinical trials:

Search ClinicalTrials for Fuchs' Endothelial Dystrophy

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Search CenterWatch for Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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20GeneTests
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Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy20

Anatomical Context for Fuchs' Endothelial Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

32
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.7BCL2, COL8A2, COL8A1, PITX2, FBXO7, PRDX6
2MP:00053847.0PITX2, FBXO7, PRDX2, PRDX3, PRDX6, BAX
3MP:00053876.3PITX2, FBXO7, PRDX2, PRDX3, BAX, CLU

Publications for Fuchs' Endothelial Dystrophy

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50PubMed
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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy. (24255041)
2014
2
Descemet stripping endothelial keratoplasty for the treatment of combined fuchs corneal endothelial dystrophy and keratoconus. (24240488)
2014
3
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
4
Mutagenesis of mitochondrial DNA in Fuchs endothelial corneal dystrophy. (24374226)
2013
5
Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States. (22998502)
2013
6
Association of smoking and other risk factors with Fuchs' endothelial corneal dystrophy severity and corneal thickness. (23882692)
2013
7
Polymorphism of the transferrin gene in eye diseases: keratoconus and fuchs endothelial corneal dystrophy. (24350254)
2013
8
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
9
Oxidative stress in the pathogenesis of keratoconus and Fuchs endothelial corneal dystrophy. (24065107)
2013
10
Polymorphisms of the homologous recombination gene RAD51 in keratoconus and Fuchs endothelial corneal dystrophy. (24223453)
2013
11
Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. (24348007)
2013
12
Sulforaphane decreases endothelial cell apoptosis in fuchs endothelial corneal dystrophy: a novel treatment. (24030461)
2013
13
Culture of human corneal endothelial cells isolated from corneas with Fuchs endothelial corneal dystrophy. (22134119)
2012
14
A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability. (22045388)
2012
15
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
16
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. (22002996)
2012
17
Corneal haze determined by confocal microscopy 2 years after Descemet stripping with endothelial keratoplasty for Fuchs corneal dystrophy. (22410629)
2012
18
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. (23110055)
2012
19
Corneal haze in course of Fuchs' endothelial dystrophy. (23007820)
2012
20
Is excimer laser corneal surgery appropriate after resolution of corneal edema in fuchs dystrophy by descemet membrane endothelial keratoplasty? (20540467)
2011
21
p53-regulated increase in oxidative-stress--induced apoptosis in Fuchs endothelial corneal dystrophy: a native tissue model. (22064994)
2011
22
Unfolded protein response in fuchs endothelial corneal dystrophy: a unifying pathogenic pathway? (20103053)
2010
23
Evidence of oxidative stress in the pathogenesis of fuchs endothelial corneal dystrophy. (20847286)
2010
24
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (20144242)
2010
25
The genetic basis of fuchs endothelial corneal dystrophy. (22737377)
2010
26
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
27
Alterations in the aqueous humor proteome in patients with Fuchs endothelial corneal dystrophy. (21139973)
2010
28
Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. (19011008)
2009
29
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
30
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (18172091)
2008
31
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
32
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
33
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (18024964)
2008
34
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
35
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
36
Advanced glycation end products and receptors in Fuchs' dystrophy corneas undergoing Descemet's stripping with endothelial keratoplasty. (17320180)
2007
37
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. (18024822)
2007
38
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
39
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
40
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
41
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
42
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
43
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
44
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
45
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
46
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
47
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
48
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
49
On the significance of a low endothelial cell density in Fuchs' endothelial dystrophy. A specular microscopic study. (6967672)
1980
50
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971

Genetic Variations for Fuchs' Endothelial Dystrophy

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Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fuchs' Endothelial Dystrophy

Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.

Pathways for genes affiliated with Fuchs' Endothelial Dystrophy

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore
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Pathways related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8BCL2, BAX
28.9PRDX5, PRDX3, PRDX2
3
Hide members
8.9PRDX5, PRDX3, PRDX2

Compounds for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1bax inhibitor peptide v55910.2BAX, BCL2
2mim15910.2BAX, BCL2
3bax channel blocker5910.2BAX, BCL2
4ha14-15910.2BAX, BCL2
5at 1015910.2BAX, BCL2
6ponicidin4410.2BAX, BCL2
7tanshinone iia4410.2BCL2, BAX
8gambogic acid4410.2BCL2, BAX
9evodiamine4410.2BCL2, BAX
10ptpc4410.2BCL2, BAX
11bongkrekic acid4410.2BAX, BCL2
12oridonin4410.2BAX, BCL2
13bufalin4410.2BAX, BCL2
144,6-diamidino-2-phenylindole4410.2BAX, BCL2
1510-hydroxycamptothecin4410.1BAX, BCL2
16ursolic acid4410.1BCL2, BAX
17beta-lapachone4410.1BCL2, BAX
18sanguinarine4410.1BCL2, BAX
19ginsenoside4410.1BCL2, BAX
20exisulind4410.1BCL2, BAX
21pd 1693164410.1BAX, BCL2
22shikonin4410.0BAX, BCL2
23eb 108944 5911.0BAX, CLU, BCL2
24dutp4410.0BCL2, CLU, BAX
25mononucleotide4410.0TCF4, BAX
26diallyl disulfide449.8BAX, BCL2
27chlorambucil44 1110.8BCL2, BAX
28sulforaphane449.8PRDX5, BAX, BCL2
29gossypol449.7BAX, BCL2
30docetaxel44 49 59 1112.7BCL2, CLU, BAX
31resveratrol44 59 11 2412.6BCL2, BAX, PRDX5
32adriamycin449.5PRDX5, BAX, BCL2
33etoposide44 49 59 1112.5PRDX5, BAX, CLU, BCL2
34n acetylcysteine449.5BCL2, CLU, BAX, PRDX5
35dithiothreitol449.4PRDX2, PRDX5, PRDX6
36camptothecin44 59 1111.3BCL2, CLU, BAX
37glyceraldehyde 3-phosphate449.2PRDX2, PRDX5, PRDX6, CLU
38cysteine448.7PITX2, PRDX2, PRDX5, PRDX6, CLU, TGFBI
39superoxide44 249.6PRDX2, PRDX3, PRDX5, PRDX6, CLU
40serine448.4PITX2, PRDX2, PRDX5, PRDX6, CLU, BCL2
41h2o2448.0BCL2, PRDX2, PRDX3, PRDX5, PRDX6, BAX
42oxygen44 249.0PRDX2, PRDX3, PRDX5, PRDX6, BAX, CLU

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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16Gene Ontology
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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:0469309.8BCL2, BAX
2extracellular matrixGO:0310128.9TGFBI, CLU, COL8A1, COL8A2

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:00680810.1BAX, BCL2
2regulation of protein heterodimerization activityGO:04349710.1BAX, BCL2
3regulation of protein homodimerization activityGO:04349610.1BAX, BCL2
4response to acidGO:00110110.0BAX, BCL2
5epithelial cell proliferationGO:0506739.9COL8A1, COL8A2
6B cell homeostasisGO:0017829.9BCL2, BAX
7release of cytochrome c from mitochondriaGO:0018369.9BAX, CLU, BCL2
8positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.9BCL2, CLU, BAX
9camera-type eye morphogenesisGO:0485939.9COL8A2, COL8A1
10intrinsic apoptotic signaling pathwayGO:0971939.9BCL2, CLU, BAX
11homeostasis of number of cells within a tissueGO:0488739.8BCL2, BAX
12cellular response to organic substanceGO:0713109.7BAX, BCL2
13intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:0700599.5BCL2, BAX
14regulation of mitochondrial membrane potentialGO:0518819.5PRDX3, BAX, BCL2
15negative regulation of neuron apoptotic processGO:0435249.5BCL2, BAX, PRDX2
16cellular response to reactive oxygen speciesGO:0346149.4PRDX5, PRDX3
17hydrogen peroxide catabolic processGO:0427448.8PRDX6, PRDX5, PRDX3, PRDX2
18response to oxidative stressGO:0069798.8PRDX6, PRDX5, PRDX3, PRDX2

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BH3 domain bindingGO:0514349.8BAX, BCL2
2channel activityGO:0152679.7BCL2, BAX
3cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430279.4PRDX5, PRDX3
4antioxidant activityGO:0162099.2PRDX6, PRDX5, PRDX2
5peroxiredoxin activityGO:0519209.1PRDX6, PRDX5, PRDX3
6peroxidase activityGO:0046019.1PRDX5, PRDX3

Products for genes affiliated with Fuchs' Endothelial Dystrophy

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Sources for Fuchs' Endothelial Dystrophy

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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