MCID: CRN025
MIFTS: 46

Corneal Dystrophy malady

Eye diseases category

Summaries for Corneal Dystrophy

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63Wikipedia, 32MalaCards
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Wikipedia:63 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

MalaCards: Corneal Dystrophy, also known as hereditary corneal dystrophy, is related to lattice corneal dystrophy and meesmann corneal dystrophy. An important gene associated with Corneal Dystrophy is CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2), and among its related pathways is Packaging Of Telomere Ends. The compound keratan sulfate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and kidney, and related mouse phenotype vision/eye.

Aliases & Classifications for Corneal Dystrophy

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

corneal dystrophy 8 20 22 10 44 60
hereditary corneal dystrophy 8 60
corneal dystrophies hereditary 44


External Ids:

Disease Ontology8 DOID:2566
NCIt39 C34512
MeSH34 D003317
ICD9CM27 371.50, 371.5
ICD1025 H18.5

Related Diseases for Corneal Dystrophy

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy31.5GSN, TGIF1, TGFBI, TACSTD2
2meesmann corneal dystrophy31.0KRT12, KRT3
3corneal dystrophy avellino type30.9TGFBI, TGIF1
4lattice corneal dystrophy type 130.9TGIF1, GSN, TGFBI
5amyloidosis30.7DCN, GSN
6keratoconus30.7COL8A2, DCN, KRT12, KRT3, GSN, TGFBI
7amyloidosis corneal30.6TACSTD2, GSN, TGFBI
8corneal disease30.5CHST6, KRT12, KRT3, GSN, TGFBI
9posterior polymorphous corneal dystrophy30.5VSX1, COL8A2, ZEB1
10recurrent corneal erosion30.4TGFBI, KRT12
11corneal edema29.9SLC4A11, VSX1
12macular corneal dystrophy11.0
13corneal granular dystrophy10.9
14fuchs' endothelial dystrophy10.8
15congenital stromal corneal dystrophy10.7
16lattice corneal dystrophy type ii10.6
17groenouw type i corneal dystrophy10.6
18corneal deposit10.5
19corneal dystrophy of bowman layer type 110.5
20epithelial basement membrane corneal dystrophy10.5
21corneal dystrophy thiel behnke type10.5
22corneal dystrophy crystalline of schnyder10.5
23corneal dystrophy fuchs endothelial 110.5
24cataract10.5
25spinocerebellar degeneration and corneal dystrophy10.4
26lattice corneal dystrophy type 3a10.4
27corneal fleck dystrophy10.4
28corneal dystrophy, lisch epithelial10.4
29corneal dystrophy, endothelial, x-linked10.4
30corneal dystrophy fuchs endothelial 210.4
31corneal dystrophy, hereditary polymorphous posterior10.4
32subepithelial mucinous corneal dystrophy10.4
33posterior amorphous corneal dystrophy10.4
34corneal dystrophy and perceptive deafness10.3
35corneal endothelial dystrophy and perceptive deafness10.3
36finnish type amyloidosis10.3
37chandler syndrome10.3
38corneal degeneration10.3
39glaucoma10.3
40corneodermatoosseous syndrome10.3
41spastic ataxia - corneal dystrophy10.3
42corneal neovascularization10.2
43myopia10.2
44corneal dystrophy, fuchs endothelial, 810.2
45grayson-wilbrandt corneal dystrophy10.2
46pre-descemet corneal dystrophy10.2
47honey-droplet corneal dystrophy10.2
48type vi ehlers-danlos syndrome10.1
49pachyonychia congenita10.1
50juvenile glaucoma10.1

Graphical network of the top 20 diseases related to Corneal Dystrophy:



Diseases related to corneal dystrophy

Clinical Features for Corneal Dystrophy

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Drugs & Therapeutics for Corneal Dystrophy

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

Search CenterWatch for Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy

Search NIH Clinical Center for Corneal Dystrophy

Search CenterWatch for Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

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20GeneTests, 22GTR
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Genetic tests related to Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy20 22 CYP4V2

Anatomical Context for Corneal Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy:

32
Endothelial, Eye, Kidney, Skin, Testes

Animal Models for Corneal Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Corneal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.3KRT12, SLC4A11, VSX1, DCN, ZEB1, COL8A2

Publications for Corneal Dystrophy

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50PubMed
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Articles related to Corneal Dystrophy:

(show top 50)    (show all 718)
idTitleAuthorsYear
1
Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I. (24425855)
2014
2
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
3
Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides. (23861389)
2013
4
IL1beta, IL6 and IL8 gene polymorphisms involvement in recurrent corneal erosion in patients with hereditary stromal corneal dystrophies. (23821953)
2013
5
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. (23422828)
2013
6
Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. (23559851)
2013
7
Polymorphisms of the homologous recombination gene RAD51 in keratoconus and Fuchs endothelial corneal dystrophy. (24223453)
2013
8
Sulforaphane decreases endothelial cell apoptosis in fuchs endothelial corneal dystrophy: a novel treatment. (24030461)
2013
9
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. (22341973)
2012
10
Cytomegalovirus associated corneal endotheliitis after penetrating keratoplasty in a patient with Fuchs corneal endothelial dystrophy. (22049489)
2012
11
Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. (22965308)
2012
12
Molecular genetic analysis of macular corneal dystrophy patients from North India. (22261655)
2012
13
Prevalence and severity of fuchs corneal dystrophy in Tangier Island. (22321803)
2012
14
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. (23110055)
2012
15
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. (22065921)
2011
16
The parameters to establish a new corneal dystrophy. (21784192)
2011
17
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. (21887843)
2011
18
Analysis of deposit depth and morphology in granular corneal dystrophy type 2 using fourier domain optical coherence tomography. (21242786)
2011
19
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. (22194646)
2011
20
Involvement of TGF-{beta} receptor- and integrin-mediated signaling pathways in the pathogenesis of granular corneal dystrophy II. (19933198)
2010
21
The genetic basis of fuchs endothelial corneal dystrophy. (22737377)
2010
22
Three-dimensional optical coherence tomography-guided phototherapeutic keratectomy for granular corneal dystrophy. (19654514)
2009
23
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. (19649163)
2009
24
A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. (18728790)
2008
25
Three-dimensional optical coherence tomography of granular corneal dystrophy. (17413970)
2007
26
Meesmann's corneal dystrophy managed with an epithelial delaminator. (18059516)
2007
27
Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. (17534828)
2007
28
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. (16936088)
2006
29
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
30
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)
2005
31
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. (16252232)
2005
32
Recurrent corneal erosion (RCE) secondary to lattice dystrophy in a patient with acquired immune deficiency syndrome (AIDS). (16361033)
2005
33
PTK in corneal dystrophy. (15097122)
2004
34
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy. (12614764)
2003
35
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. (14562173)
2003
36
The changing face of the genetics of corneal dystrophies. (12165700)
2002
37
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. (12400061)
2002
38
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. (11836359)
2002
39
Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy. (11413412)
2001
40
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (10781519)
2000
41
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. (10798644)
2000
42
Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. (10928776)
2000
43
Kerato-epithelin mutation (R 555 Q) in a case of reis-Bucklers corneal dystrophy (10715402)
2000
44
Chronic clinical course of two patients with severe corneal dystrophy caused by homozygous R124H mutations in the betaig-h3 gene. (10844061)
2000
45
In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. (10328394)
1999
46
Identification of the gene responsible for gelatinous drop-like corneal dystrophy. (10192395)
1999
47
Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. (2951638)
1986
48
Superficial involvement in lattice corneal dystrophy. (3495762)
1986
49
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). (6610849)
1983
50
Primary familial corneal amyloidosis (lattice corneal dystrophy). (5298242)
1967

Genetic Variations for Corneal Dystrophy

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Expression for genes affiliated with Corneal Dystrophy

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

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Pathways for genes affiliated with Corneal Dystrophy

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53Reactome
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Pathways related to Corneal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.4TGFBI, GSN

Compounds for genes affiliated with Corneal Dystrophy

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44Novoseek
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Compounds related to Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1keratan sulfate4410.4CHST6, DCN

GO Terms for genes affiliated with Corneal Dystrophy

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16Gene Ontology
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Cellular components related to Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:03101210.4TGFBI, DCN, COL8A2

Biological processes related to Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:05089610.4TGFBI, VSX1, CYP4V2
2visual perceptionGO:00760110.0TGFBI, KRT12, VSX1, TACSTD2, CYP4V2

Molecular functions related to Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:05084010.4TGFBI, DCN

Products for genes affiliated with Corneal Dystrophy

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  • Antibodies
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Sources for Corneal 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