MCID: FCH001
MIFTS: 45

Fuchs' Endothelial Dystrophy malady

Summaries for Fuchs' Endothelial Dystrophy

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 posterior polymorphous corneal dystrophy and corneal dystrophy, fuchs endothelial, 5. 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 related mouse phenotypes are vision/eye and cellular.

Wikipedia:64 Fuchs\' dystrophy (pronounced fuchs-DIS-trə-fe) also known as Fuchs\' endothelial dystrophy, is a... more...

Description from OMIM:47 613270,136800,613268

Aliases & Classifications for Fuchs' Endothelial Dystrophy

Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 40NCIt, 57SNOMED-CT
See all sources

Aliases & Descriptions:

fuchs' endothelial dystrophy 8 21
fuchs endothelial dystrophy 21 10 61
fuch's endothelial corneal dystrophy 8 20
fuchs dystrophy 21 45
corneal dystrophy, fuchs' endothelial, 1 61
corneal dystrophy, fuchs endothelial 45
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
MeSH35 D005642
NCIt40 C84721

Related Diseases for Fuchs' Endothelial Dystrophy

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1posterior polymorphous corneal dystrophy30.5VSX1, COL8A2
2corneal dystrophy, fuchs endothelial, 510.5
3corneal dystrophy, fuchs endothelial, 710.5
4corneal dystrophy, fuchs endothelial, 610.5
5corneal dystrophy, fuchs endothelial, 310.5
6corneal dystrophy, fuchs endothelial, 410.5
7bullous keratopathy10.5
8corneal disease10.3
9ocular hypertension10.3
10corneal dystrophy, fuchs endothelial, 810.3
11corneal granular dystrophy10.2
12blepharospasm10.2
13corneal dystrophy fuchs endothelial 110.2
14corneal dystrophy fuchs endothelial 210.2
15corneal dystrophy, hereditary polymorphous posterior10.2
16down syndrome10.0PRDX6
17atherosclerosis10.0CLU
18pituitary adenoma10.0PITX2
19osteosarcoma10.0BAX
20tuberculosis10.0PRDX6, PRDX5
21gastrointestinal system disease10.0BAX
22keratopathy10.0FBXO7, PBK
23glaucoma10.0VSX1, PITX2
24lung cancer10.0BCL2
25cataract10.0PRDX5, TGFBI
26irregular astigmatism10.0VSX1, FBXO7
27corneal edema10.0FBXO7, VSX1, PBK
28keratoconus10.0TGFBI, VSX1, FBXO7, COL8A2
29pancreatic cancer10.0PRDX5, BAX, BCL2
30melanoma10.0BCL2, BAX, PRDX5
31adenoma10.0PITX2, BAX, BCL2
32corneal dystrophy10.0COL8A2, COL8A1, FBXO7, VSX1, TGFBI
33lung adenocarcinoma10.0TGFBI, BCL2, BAX, PRDX5
34ovarian cancer10.0PRDX5, BAX, CLU, BCL2
35non-small cell lung carcinoma10.0PRDX5, BAX, BCL2
36prostate cancer10.0BCL2, CLU, BAX, PRDX5
37adenocarcinoma10.0PRDX6, BAX, CLU, BCL2, TGFBI
38hepatocellular carcinoma10.0PRDX5, BAX, CLU, TCF4, BCL2
39colon cancer10.0PRDX5, BAX, CLU, TCF4, BCL2
40breast cancer10.0PITX2, PRDX2, PRDX5, PRDX6, BAX, CLU
41leukemia10.0TGFBI, BCL2, TCF4, BAX, PITX2
42squamous cell carcinoma10.0PRDX2, BAX, CLU, TCF4, BCL2
43colorectal cancer10.0TGFBI, BCL2, TCF4, CLU, BAX

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



Diseases related to fuchs' endothelial dystrophy

Clinical Features for Fuchs' Endothelial Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613270,136800,613268

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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

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

Sources:
20GeneTests
See all sources

Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy20

Anatomical Context for Fuchs' Endothelial Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

33
Endothelial

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

37
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

Sources:
51PubMed
See all sources

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
Cataract Surgery in Patients with Fuchs' Endothelial Corneal Dystrophy: When to Consider a Triple Procedure. (24289914)
2013
5
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
6
Long-term evaluation of endothelial cell changes in Fuchs corneal dystrophy: the influence of phacoemulsification and penetrating keratoplasty. (24311925)
2013
7
Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States. (22998502)
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
Cellular and subbasal nerve alterations in early stage Fuchs' endothelial corneal dystrophy: an in vivo confocal microscopy study. (23154490)
2013
11
Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. (24348007)
2013
12
Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy. (23449721)
2013
13
A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability. (22045388)
2012
14
Decline in DJ-1 and decreased nuclear translocation of Nrf2 in Fuchs endothelial corneal dystrophy. (22836768)
2012
15
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
16
Corneal haze determined by confocal microscopy 2 years after Descemet stripping with endothelial keratoplasty for Fuchs corneal dystrophy. (22410629)
2012
17
Relationship Between Fuchs Endothelial Corneal Dystrophy Severity and Glaucoma and/or Ocular Hypertension. (22777534)
2012
18
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. (23110055)
2012
19
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
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
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
23
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
24
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
25
Evidence of oxidative stress in the pathogenesis of fuchs endothelial corneal dystrophy. (20847286)
2010
26
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (20144242)
2010
27
The genetic basis of fuchs endothelial corneal dystrophy. (22737377)
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
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (18024964)
2008
31
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
32
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. (18024822)
2007
33
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
34
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. (17057173)
2006
35
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
36
Epithelial cell, keratocyte, and endothelial cell apoptosis in Fuchs' dystrophy and in pseudophakic bullous keratopathy. (15751234)
2005
37
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
38
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
39
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
40
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
41
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
42
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
43
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
44
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
45
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
46
On the significance of a low endothelial cell density in Fuchs' endothelial dystrophy. A specular microscopic study. (6967672)
1980
47
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
48
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971
49
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969
50
THE FINE STRUCTURE OF THE CORNEA IN FUCHS' ENDOTHELIAL DYSTROPHY. (14121146)
1964

Genetic Variations for Fuchs' Endothelial Dystrophy

Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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

Sources:
38NCBI BioSystems Database, 54Reactome, 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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1bax inhibitor peptide v56010.2BAX, BCL2
2mim16010.2BAX, BCL2
3bax channel blocker6010.2BAX, BCL2
4ha14-16010.2BAX, BCL2
5at 1016010.2BAX, BCL2
6ponicidin4510.2BAX, BCL2
7tanshinone iia4510.2BCL2, BAX
8gambogic acid4510.2BCL2, BAX
9evodiamine4510.2BCL2, BAX
10ptpc4510.2BCL2, BAX
11bongkrekic acid4510.2BAX, BCL2
12oridonin4510.2BAX, BCL2
13bufalin4510.2BAX, BCL2
144,6-diamidino-2-phenylindole4510.2BAX, BCL2
1510-hydroxycamptothecin4510.1BAX, BCL2
16ursolic acid4510.1BCL2, BAX
17beta-lapachone4510.1BCL2, BAX
18sanguinarine4510.1BCL2, BAX
19ginsenoside4510.1BCL2, BAX
20exisulind4510.1BCL2, BAX
21pd 1693164510.1BAX, BCL2
22shikonin4510.0BAX, BCL2
23eb 108945 6011.0BAX, CLU, BCL2
24dutp4510.0BCL2, CLU, BAX
25mononucleotide4510.0TCF4, BAX
26diallyl disulfide459.8BAX, BCL2
27chlorambucil45 1110.8BCL2, BAX
28sulforaphane459.8PRDX5, BAX, BCL2
29gossypol459.7BAX, BCL2
30docetaxel45 50 60 1112.7BCL2, CLU, BAX
31resveratrol45 60 11 2412.6BCL2, BAX, PRDX5
32adriamycin459.5PRDX5, BAX, BCL2
33etoposide45 50 60 1112.5PRDX5, BAX, CLU, BCL2
34n acetylcysteine459.5BCL2, CLU, BAX, PRDX5
35dithiothreitol459.4PRDX2, PRDX5, PRDX6
36camptothecin45 60 1111.3BCL2, CLU, BAX
37glyceraldehyde 3-phosphate459.2PRDX2, PRDX5, PRDX6, CLU
38cysteine458.7PITX2, PRDX2, PRDX5, PRDX6, CLU, TGFBI
39superoxide45 249.6PRDX2, PRDX3, PRDX5, PRDX6, CLU
40serine458.4PITX2, PRDX2, PRDX5, PRDX6, CLU, BCL2
41h2o2458.0BCL2, PRDX2, PRDX3, PRDX5, PRDX6, BAX
42oxygen45 249.0PRDX2, PRDX3, PRDX5, PRDX6, BAX, CLU

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

Sources:
16Gene Ontology
See all sources

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

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