MCID: FCH001
MIFTS: 53

Fuchs' Endothelial Dystrophy malady

Genetic diseases (common), Eye diseases categories
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Summaries for Fuchs' Endothelial Dystrophy

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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 based summary: Fuchs' Endothelial Dystrophy, also known as fuch's endothelial corneal dystrophy, is related to posterior polymorphous corneal dystrophy and keratoconus. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (collagen, type VIII, alpha 2), and among its related pathways are 14-3-3 and Regulation of BAD Activity and Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins. 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 hearing/vestibular/ear and respiratory system.

Wikipedia:65 Fuchs\' dystrophy (pronounced fooks-DIS-tr?-fe), also known as Fuchs\' corneal endothelial dystrophy or... more...

Descriptions from OMIM:46 613270,613268,136800

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Fuchs' Endothelial Dystrophy, Aliases & Descriptions:

Name: Fuchs' Endothelial Dystrophy 8 21
Fuch's Endothelial Corneal Dystrophy 8 20 62
Fuchs Endothelial Dystrophy 21 10 62
Fuchs Endothelial Corneal Dystrophy 21 62
Fuchs Dystrophy 21 44
 
Corneal Dystrophy, Fuchs' Endothelial, 1 62
Corneal Dystrophy, Fuchs Endothelial 44
Fuchs' Corneal Dystrophy 8
Fuchs Corneal Dystrophy 21
Fuchs Atrophy 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:11555
NCIt39 C84721
MeSH34 D005642

Related Diseases for Fuchs' Endothelial Dystrophy

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1posterior polymorphous corneal dystrophy31.2COL8A2, VSX1
2keratoconus31.1TGFBI, COL8A2, VSX1
3corneal dystrophy30.5TGFBI, COL8A2, COL8A1, VSX1
4endotheliitis11.1
5corneal dystrophy, fuchs endothelial, 410.7
6cataract10.6
7corneal dystrophy, fuchs endothelial, 510.5
8corneal dystrophy, fuchs endothelial, 710.5
9corneal dystrophy, fuchs endothelial, 610.5
10corneal dystrophy, fuchs endothelial, 310.5
11keratopathy10.5
12bullous keratopathy10.5
13hypertension10.4
14ocular hypertension10.4
15eye disease10.4
16myotonic dystrophy10.4
17epithelial basement membrane corneal dystrophy10.4
18corneal dystrophy, fuchs endothelial, 810.4
19posterior cortical atrophy10.4
20blepharospasm10.3
21corneal edema10.3
22corneal dystrophy fuchs endothelial 110.3
23corneal dystrophy fuchs endothelial 210.3
24reticulosarcoma10.1CLU, BCL2
25non-small cell lung carcinoma10.0BCL2, PRDX5, BAX
26b-cell lymphomas9.9BAX, CLU, BCL2
27lung small cell carcinoma9.9BAX, PRDX5, BCL2
28cervical cancer9.9BAX, CLU, BCL2
29prostate cancer9.8CLU, BAX, BCL2
30lung adenocarcinoma9.8TGFBI, PRDX5, BCL2, BAX
31malignant glioma9.8BAX, PITX2, CLU, BCL2
32bladder carcinoma9.8CLU, BCL2, BAX
33endometrial carcinoma9.8BAX, TCF4, BCL2
34ovarian cancer9.8PRDX5, BAX, BCL2, CLU
35lung cancer9.7BAX, PRDX5, BCL2
36adenocarcinoma9.7BAX, PRDX6, CLU, TGFBI, BCL2
37tongue squamous cell carcinoma9.6CLU, BAX, BCL2, TCF4, PRDX2
38colonic benign neoplasm9.6CLU, TCF4, PRDX5, BCL2, BAX
39liver cancer9.6BCL2, CLU, BAX, TCF4, PRDX5
40leukemia9.6BAX, BCL2, TCF4, PITX2, TGFBI
41colorectal cancer9.5TGFBI, CLU, TCF4, BCL2, BAX
42breast cancer9.5PITX2, CLU, PRDX2, BAX, BCL2, PRDX5

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



Diseases related to fuchs' endothelial dystrophy

Symptoms for Fuchs' Endothelial Dystrophy

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Clinical features from OMIM:

613270,613268,136800

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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Drug clinical trials:

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Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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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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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

32
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9BAX, BCL2, LOXHD1, TCF4
2MP:00053888.4PITX2, PRDX6, PRDX3, BCL2, BAX
3MP:00036318.3PITX2, CLU, TCF4, LOXHD1, BCL2, VSX1
4MP:00053978.3BAX, BCL2, PRDX2, TCF4, TGFBI, PITX2
5MP:00053918.1PITX2, PRDX6, COL8A1, COL8A2, BCL2, VSX1
6MP:00053767.6PITX2, TGFBI, CLU, PRDX2, PRDX6, BCL2
7MP:00053877.5PITX2, TGFBI, CLU, TCF4, PRDX2, PRDX3
8MP:00053847.1BAX, PITX2, TGFBI, TCF4, PRDX2, PRDX6

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. (24508788)
2014
2
Vision-related Quality of Life Before and After Keratoplasty for Fuchs' Endothelial Dystrophy. (25015214)
2014
3
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. (25378902)
2014
4
Corneal Abnormalities Early in the Course ofA Fuchs' Endothelial Dystrophy. (25156138)
2014
5
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
6
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
7
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
8
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
9
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
10
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
11
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
12
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
13
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
14
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
15
Descemet's stripping automated endothelial keratoplasty and penetrating keratoplasty for Fuchs' endothelial dystrophy. (19302079)
2009
16
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
17
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
18
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
19
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
20
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
21
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
22
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
23
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
24
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
25
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
26
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
27
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. (16473218)
2005
28
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
29
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. (12792486)
2003
30
Mechanisms of disease: Fuchs' endothelial dystrophy. (12064077)
2002
31
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
32
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
33
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
34
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
35
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
36
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
37
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
38
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
39
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
40
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
41
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
42
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
43
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
44
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
45
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
46
Is there an association between Fuchs' endothelial dystrophy and cardiovascular disease? (6333375)
1984
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

Variations for Fuchs' Endothelial Dystrophy

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Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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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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Pathways related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7BAX, BCL2
2
Show member pathways
9.7BAX, BCL2
3
Show member pathways
9.7BAX, BCL2
49.7BAX, BCL2
59.7BCL2, BAX
6
Show member pathways
9.7BAX, BCL2
79.7BAX, BCL2
89.5BAX, BCL2, PITX2
9
Show member pathways
8.6TCF4, COL8A1, COL8A2, BCL2, BAX
10
Show member pathways
thioredoxin pathway37
8.5PRDX3, PRDX5, PRDX2
118.5PRDX3, PRDX5, PRDX2
12
Show member pathways
8.1PRDX3, PRDX5, PRDX6, PRDX2
13
Show member pathways
8.1PRDX2, PRDX6, PRDX5, PRDX3

Compounds for genes affiliated with Fuchs' Endothelial Dystrophy

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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1bax inhibitor peptide v56110.2BCL2, BAX
2mim16110.1BCL2, BAX
3bax channel blocker6110.1BCL2, BAX
4ha14-16110.1BCL2, BAX
5at 1016110.1BCL2, BAX
6ponicidin4410.1BCL2, BAX
7tanshinone iia4410.1BCL2, BAX
8gambogic acid4410.1BCL2, BAX
9evodiamine4410.1BAX, BCL2
10ptpc4410.1BCL2, BAX
11bongkrekic acid4410.1BAX, BCL2
12oridonin4410.1BAX, BCL2
13bufalin4410.1BCL2, BAX
144,6-diamidino-2-phenylindole4410.1BCL2, BAX
1510-hydroxycamptothecin4410.1BCL2, BAX
16ursolic acid4410.1BCL2, BAX
17beta-lapachone4410.1BCL2, BAX
18ginsenoside4410.0BAX, BCL2
19sanguinarine4410.0BAX, BCL2
20exisulind4410.0BCL2, BAX
21shikonin4410.0BAX, BCL2
22pd 1693164410.0BAX, BCL2
23mononucleotide4410.0TCF4, BAX
24gossypol449.9BAX, BCL2
25eb 108944 6110.9BAX, BCL2, CLU
26dutp449.9BAX, BCL2, CLU
27diallyl disulfide449.9BAX, BCL2
28chlorambucil44 1110.8BCL2, BAX
29camptothecin44 61 1111.7CLU, BCL2, BAX
30docetaxel44 50 61 1112.7BAX, BCL2, CLU
31olomoucine44 1110.7BAX, BCL2
32hoechst 33342449.7BAX, BCL2
33agarose449.7BAX, BCL2, CLU
34phenethyl isothiocyanate2 4410.6BAX, BCL2
35vitamin e succinate449.4BAX, BCL2
36sulforaphane449.3PRDX5, BCL2, BAX
37resveratrol44 61 24 1112.2BAX, BCL2, PRDX5
38adriamycin449.2PRDX5, BCL2, BAX
39dithiothreitol449.1PRDX2, PRDX6, PRDX5
40etoposide44 50 61 1112.0CLU, PRDX5, BCL2, BAX
41n acetylcysteine449.0CLU, PRDX5, BCL2, BAX
42curcumin449.0BAX, BCL2, PRDX5
43cisplatin44 50 61 1111.9BAX, BCL2, PRDX5, CLU
44glyceraldehyde 3-phosphate448.8PRDX5, PRDX6, PRDX2, CLU
45retinoic acid44 249.4CLU, PRDX2, PRDX5, BCL2, BAX
46cysteine448.3PITX2, TGFBI, CLU, PRDX2, PRDX6, PRDX5
47superoxide44 249.2CLU, PRDX2, PRDX6, PRDX5, PRDX3
48serine447.9PITX2, TGFBI, CLU, PRDX2, PRDX6, PRDX5
49h2o2447.5BAX, CLU, PRDX2, PRDX6, PRDX5, PRDX3
50oxygen44 248.5CLU, PRDX2, PRDX6, PRDX5, PRDX3, BCL2

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:0469309.7BAX, BCL2
2basement membraneGO:0056049.5TGFBI, COL8A1, COL8A2
3extracellular matrixGO:0310129.2COL8A2, COL8A1, CLU, TGFBI
4mitochondrionGO:0057397.7CLU, PRDX5, PRDX3, BCL2, BAX
5extracellular vesicular exosomeGO:0700627.6TGFBI, CLU, PRDX2, PRDX6, PRDX5, BAX
6cytosolGO:0058297.6BAX, BCL2, PRDX5, PRDX6, PRDX2, CLU

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:00680810.1BCL2, BAX
2regulation of protein homodimerization activityGO:04349610.1BAX, BCL2
3regulation of protein heterodimerization activityGO:04349710.1BAX, BCL2
4endoplasmic reticulum calcium ion homeostasisGO:03246910.1BCL2, BAX
5response to acidGO:00110110.1BAX, BCL2
6epithelial cell proliferationGO:05067310.0COL8A2, COL8A1
7camera-type eye morphogenesisGO:04859310.0COL8A1, COL8A2
8negative regulation of apoptotic signaling pathwayGO:200123410.0BCL2, BAX
9cellular response to organic substanceGO:07131010.0BCL2, BAX
10B cell homeostasisGO:00178210.0BCL2, BAX
11homeostasis of number of cells within a tissueGO:0488739.9BAX, BCL2
12intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:0700599.9BAX, BCL2
13spleen developmentGO:0485369.9BCL2, PITX2
14response to gamma radiationGO:0103329.9BAX, BCL2
15release of cytochrome c from mitochondriaGO:0018369.8BAX, BCL2, CLU
16positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.8BAX, BCL2, CLU
17intrinsic apoptotic signaling pathwayGO:0971939.8BAX, BCL2, CLU
18neuron apoptotic processGO:0514029.8BAX, BCL2
19extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.7BCL2, BAX
20ovarian follicle developmentGO:0015419.7BAX, BCL2
21extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.6BAX, BCL2
22angiogenesisGO:0015259.6TGFBI, COL8A1, COL8A2
23negative regulation of neuron apoptotic processGO:0435249.5BAX, BCL2, PRDX2
24regulation of mitochondrial membrane potentialGO:0518819.5PRDX3, BCL2, BAX
25cellular response to reactive oxygen speciesGO:0346149.3PRDX5, PRDX3
26response to hydrogen peroxideGO:0425429.1BCL2, PRDX3
27hydrogen peroxide catabolic processGO:0427448.4PRDX3, PRDX5, PRDX6, PRDX2
28response to oxidative stressGO:0069798.4PRDX3, PRDX5, PRDX6, PRDX2
29negative regulation of apoptotic processGO:0430668.4BCL2, PRDX3, PRDX5, PRDX2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.8TCF4, PITX2
2BH3 domain bindingGO:0514349.8BAX, BCL2
3channel activityGO:0152679.7BCL2, BAX
4peroxidase activityGO:0046018.9PRDX3, PRDX5
5antioxidant activityGO:0162098.8PRDX5, PRDX6, PRDX2
6cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:0430278.7PRDX3, PRDX5
7peroxiredoxin activityGO:0519208.7PRDX3, PRDX5, PRDX6

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet