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
Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family. (23569037)
2013
2
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. (23807007)
2013
3
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. (23017278)
2013
4
Individual phenotypic variances in a family with Avellino corneal dystrophy. (23837658)
2013
5
Clinical features and in-vivo confocal microscopic imaging of fleck corneal dystrophy. (23627401)
2013
6
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. (22367041)
2012
7
In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies. (22850414)
2012
8
Concurrent macular corneal dystrophy and keratoconus. (22623870)
2012
9
Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. (22218250)
2012
10
A cellular model for the investigation of Fuchs' endothelial corneal dystrophy. (22020132)
2011
11
Is excimer laser corneal surgery appropriate after resolution of corneal edema in fuchs dystrophy by descemet membrane endothelial keratoplasty? (20540467)
2011
12
Melatonin protects against oxidative stress in granular corneal dystrophy type 2 corneal fibroblasts by mechanisms that involve membrane melatonin receptors. (21392093)
2011
13
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. (21245398)
2011
14
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. (21242781)
2011
15
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype. (21264234)
2011
16
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement. (20974628)
2011
17
Characteristic features of granular deposit formation in granular corneal dystrophy type 2. (21217525)
2011
18
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. (20202685)
2010
19
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. (20161820)
2010
20
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. (20357204)
2010
21
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (20144242)
2010
22
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (20484579)
2010
23
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality. (21191728)
2010
24
Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma. (20597644)
2010
25
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
26
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. (19622345)
2009
27
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. (18464802)
2009
28
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. (19092416)
2009
29
Bilateral coexistence of keratoconus and macular corneal dystrophy. (20671834)
2009
30
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
31
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (18806880)
2008
32
p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. (18752451)
2008
33
Granular corneal dystrophy manifesting after radial keratotomy. (18043189)
2007
34
Analysis of gene mutation in Chinese patients with Reis-BA1cklers corneal dystrophy]. (15840366)
2005
35
Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. (16303941)
2005
36
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
37
Novel mutations in the CHST6 gene causing macular corneal dystrophy. (14984470)
2004
38
Morphometric analysis of deposits in granular and lattice corneal dystrophy: histopathologic implications for phototherapeutic keratectomy. (15097134)
2004
39
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. (12812879)
2003
40
Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody. (11747360)
2001
41
Gelatino-lattice corneal dystrophy: clinical features and mutational analysis. (10844062)
2000
42
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. (11262611)
2000
43
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
44
Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. (9758629)
1998
45
Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy. (9640198)
1998
46
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations. (9541117)
1998
47
Macular corneal dystrophy type II: multiple studies on a cornea with low levels of sulphated keratan sulphate. (9246278)
1997
48
Three autosomal dominant corneal dystrophies map to chromosome 5q. (8136834)
1994
49
Recurrence of macular corneal dystrophy within grafts. (6336901)
1983
50
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969

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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  • Antibodies

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