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 at 101 and ha14-1 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, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 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:00053917.7COL8A2, BCL2, VSX1, BAX, PRDX6, FBXO7
2MP:00053847.0BCL2, TCF4, BAX, PRDX6, PRDX3, PRDX2
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
Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy: a case series. (24270677)
2014
2
Cataract Surgery in Patients with Fuchs' Endothelial Corneal Dystrophy: When to Consider a Triple Procedure. (24289914)
2013
3
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
4
Long-term evaluation of endothelial cell changes in Fuchs corneal dystrophy: the influence of phacoemulsification and penetrating keratoplasty. (24311925)
2013
5
DNA damage and repair in Fuchs endothelial corneal dystrophy. (23275192)
2013
6
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
7
Cellular and subbasal nerve alterations in early stage Fuchs' endothelial corneal dystrophy: an in vivo confocal microscopy study. (23154490)
2013
8
Lithium treatment increases endothelial cell survival and autophagy in a mouse model of Fuchs endothelial corneal dystrophy. (23759441)
2013
9
Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy. (23449721)
2013
10
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy. (23601356)
2013
11
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
12
A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability. (22045388)
2012
13
Decline in DJ-1 and decreased nuclear translocation of Nrf2 in Fuchs endothelial corneal dystrophy. (22836768)
2012
14
Cytomegalovirus associated corneal endotheliitis after penetrating keratoplasty in a patient with Fuchs corneal endothelial dystrophy. (22049489)
2012
15
Corneal haze determined by confocal microscopy 2 years after Descemet stripping with endothelial keratoplasty for Fuchs corneal dystrophy. (22410629)
2012
16
Relationship Between Fuchs Endothelial Corneal Dystrophy Severity and Glaucoma and/or Ocular Hypertension. (22777534)
2012
17
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. (23110055)
2012
18
A short-term in vivo experimental model for Fuchs endothelial corneal dystrophy. (22915029)
2012
19
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
20
A cellular model for the investigation of Fuchs' endothelial corneal dystrophy. (22020132)
2011
21
Hearing disability in patients with Fuchs' endothelial corneal dystrophy: unrecognized co-pathology? (21966205)
2011
22
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. (21533127)
2011
23
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
24
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
25
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
26
Evidence of oxidative stress in the pathogenesis of fuchs endothelial corneal dystrophy. (20847286)
2010
27
The genetic basis of fuchs endothelial corneal dystrophy. (22737377)
2010
28
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
29
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
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
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
34
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
35
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
36
Epithelial cell, keratocyte, and endothelial cell apoptosis in Fuchs' dystrophy and in pseudophakic bullous keratopathy. (15751234)
2005
37
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. (16473218)
2005
38
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
39
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
40
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
41
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
42
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
43
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
44
A comparison of corneal endothelial morphology in cornea guttata, Fuchs' dystrophy and bullous keratopathy. (3263136)
1988
45
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
46
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
47
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
48
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
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

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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
1at 1015910.2BCL2, BAX
2ha14-15910.2BCL2, BAX
3bax channel blocker5910.2BCL2, BAX
4ponicidin4410.2BAX, BCL2
5bax inhibitor peptide v55910.2BAX, BCL2
6mim15910.2BCL2, BAX
7tanshinone iia4410.2BAX, BCL2
8gambogic acid4410.2BAX, BCL2
9evodiamine4410.2BAX, BCL2
10ptpc4410.2BCL2, BAX
11bongkrekic acid4410.2BAX, BCL2
12oridonin4410.2BCL2, BAX
1310-hydroxycamptothecin4410.2BAX, BCL2
144,6-diamidino-2-phenylindole4410.2BCL2, BAX
15bufalin4410.1BAX, BCL2
16beta-lapachone4410.1BCL2, BAX
17ursolic acid4410.1BCL2, BAX
18ginsenoside4410.1BCL2, BAX
19sanguinarine4410.1BCL2, BAX
20exisulind4410.1BAX, BCL2
21pd 1693164410.1BCL2, BAX
22shikonin4410.0BAX, BCL2
23eb 108944 5911.0BCL2, BAX, CLU
24dutp4410.0CLU, BCL2, BAX
25mononucleotide4410.0TCF4, BAX
26diallyl disulfide449.8BCL2, BAX
27chlorambucil44 1110.8BAX, BCL2
28sulforaphane449.8BCL2, PRDX5, BAX
29gossypol449.7BAX, BCL2
30docetaxel44 49 59 1112.7BAX, CLU, BCL2
31resveratrol44 59 11 2412.6BCL2, PRDX5, BAX
32adriamycin449.5PRDX5, BCL2, BAX
33etoposide44 49 59 1112.5PRDX5, CLU, BCL2, BAX
34n acetylcysteine449.5BCL2, BAX, CLU, PRDX5
35dithiothreitol449.4PRDX2, PRDX5, PRDX6
36camptothecin44 59 1111.3BAX, CLU, BCL2
37glyceraldehyde 3-phosphate449.2PRDX2, PRDX5, PRDX6, CLU
38cysteine448.7PRDX2, PRDX6, PRDX5, PITX2, TGFBI, CLU
39superoxide44 249.6PRDX5, PRDX3, PRDX2, PRDX6, CLU
40serine448.4PRDX2, BCL2, TGFBI, CLU, PRDX6, PRDX5
41h2o2448.0PRDX2, PRDX3, PRDX6, BAX, CLU, BCL2
42oxygen44 249.0CLU, BAX, BCL2, PRDX6, PRDX5, PRDX3

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:04349710.1BCL2, BAX
3regulation of protein homodimerization activityGO:04349610.1BAX, BCL2
4response to acidGO:00110110.0BCL2, BAX
5epithelial cell proliferationGO:0506739.9COL8A2, COL8A1
6release of cytochrome c from mitochondriaGO:0018369.9BCL2, CLU, BAX
7positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.9BAX, BCL2, CLU
8camera-type eye morphogenesisGO:0485939.9COL8A2, COL8A1
9intrinsic apoptotic signaling pathwayGO:0971939.9BCL2, CLU, BAX
10B cell homeostasisGO:0017829.8BCL2, BAX
11homeostasis of number of cells within a tissueGO:0488739.8BAX, BCL2
12cellular response to organic substanceGO:0713109.7BCL2, BAX
13intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:0700599.5BAX, BCL2
14regulation of mitochondrial membrane potentialGO:0518819.5BCL2, BAX, PRDX3
15cellular response to reactive oxygen speciesGO:0346149.5PRDX5, PRDX3
16negative regulation of neuron apoptotic processGO:0435249.5PRDX2, BAX, BCL2
17hydrogen peroxide catabolic processGO:0427448.8PRDX5, PRDX6, PRDX3, PRDX2
18response to oxidative stressGO:0069798.8PRDX5, PRDX2, PRDX3, PRDX6

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

idNameGO IDScoreTop Affiliating Genes
1BH3 domain bindingGO:0514349.8BAX, BCL2
2channel activityGO:0152679.7BAX, BCL2
3peroxidase activityGO:0046019.4PRDX3, PRDX5
4antioxidant activityGO:0162099.2PRDX2, PRDX5, PRDX6
5peroxiredoxin activityGO:0519209.1PRDX3, PRDX5, PRDX6
6cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430279.1PRDX3, PRDX5

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