MCID: CRN025
MIFTS: 40

Corneal Dystrophy malady

Eye category

Summaries for Corneal Dystrophy

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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. Related mouse phenotype vision/eye.

Aliases & Classifications for Corneal Dystrophy

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

corneal dystrophy 8 20 22 10 45 61
hereditary corneal dystrophy 8 61
corneal dystrophies hereditary 45


External Ids:

Disease Ontology8 DOID:2566
NCIt40 C34512
MeSH35 D003317
ICD9CM27 371.50, 371.5
ICD1025 H18.5

Related Diseases for Corneal Dystrophy

Sources:
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 125)
idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy31.5TACSTD2, GSN, TGFBI, TGIF1
2meesmann corneal dystrophy31.3KRT12, KRT3
3posterior polymorphous corneal dystrophy31.2COL8A2, ZEB1, VSX1
4corneal dystrophy avellino type31.1TGFBI, TGIF1
5lattice corneal dystrophy type 131.0GSN, TGFBI, TGIF1
6amyloidosis corneal30.9TGFBI, GSN, TACSTD2
7amyloidosis30.7DCN, GSN
8corneal disease30.6CHST6, KRT12, KRT3, GSN, TGFBI
9recurrent corneal erosion30.5TGFBI, KRT12
10macular corneal dystrophy11.0
11macular dystrophy11.0
12corneal granular dystrophy10.9
13fuchs' endothelial dystrophy10.9
14congenital stromal corneal dystrophy10.7
15lattice corneal dystrophy type ii10.7
16epithelial basement membrane corneal dystrophy10.6
17groenouw type i corneal dystrophy10.6
18corneal fleck dystrophy10.6
19posterior amorphous corneal dystrophy10.6
20corneal dystrophy of bowman layer type 110.6
21corneal dystrophy thiel behnke type10.6
22corneal dystrophy crystalline of schnyder10.5
23corneal dystrophy fuchs endothelial 110.5
24spinocerebellar degeneration and corneal dystrophy10.4
25lattice corneal dystrophy type 3a10.4
26corneal dystrophy, lisch epithelial10.4
27corneal dystrophy fuchs endothelial 210.4
28corneal dystrophy, hereditary polymorphous posterior10.4
29corneal dystrophy, endothelial, x-linked10.4
30subepithelial mucinous corneal dystrophy10.4
31corneal dystrophy and perceptive deafness10.4
32spastic ataxia - corneal dystrophy10.3
33finnish type amyloidosis10.3
34corneodermatoosseous syndrome10.3
35corneal endothelial dystrophy and perceptive deafness10.3
36honey-droplet corneal dystrophy10.3
37corneal dystrophy polymorphous posterior, 210.2
38corneal dystrophy, fuchs endothelial, 810.2
39type vi ehlers-danlos syndrome10.1
40pachyonychia congenita10.1
41juvenile glaucoma10.1
42bietti crystalline corneoretinal dystrophy10.1
43tyrosinemia type ii10.1
44fish-eye disease10.1
45mousa al din al nassar syndrome10.1
46corneal endothelial dystrophy type 210.1
47corneal dystrophy ichthyosis microcephaly mental retardation10.1
48corneal dystrophy pigmentary anomaly malabsorption10.1
49rutherfurd syndrome10.1
50dermochondrocorneal dystrophy of françois10.1

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



Diseases related to corneal dystrophy

Clinical Features for Corneal Dystrophy

Drugs & Therapeutics for Corneal Dystrophy

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

Sources:
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

Animal Models for Corneal Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Corneal Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.3KRT12, SLC4A11, VSX1, DCN, ZEB1, COL8A2

Publications for Corneal Dystrophy

Sources:
51PubMed
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Articles related to Corneal Dystrophy:

(show top 50)    (show all 663)
idTitleAuthorsYear
1
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. (22967865)
2013
2
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
3
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. (23222558)
2013
4
Femtosecond laser assisted lamellar keratectomy for corneal opacities due to macular dystrophy: an interventional case report. (23777567)
2013
5
Changes of clinical manifestation of granular corneal deposits because of recurrent corneal erosion in granular corneal dystrophy types 1 and 2. (23132456)
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
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy. (23601356)
2013
8
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial. (23622562)
2013
9
TGFBI gene mutations in a Korean population with corneal dystrophy. (22876129)
2012
10
Gelatinous drop-like corneal dystrophy. (23038033)
2012
11
A short-term in vivo experimental model for Fuchs endothelial corneal dystrophy. (22915029)
2012
12
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. (22065921)
2011
13
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. (20808945)
2010
14
In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy. (20139295)
2010
15
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. (20577595)
2010
16
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. (21067486)
2010
17
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. (19421034)
2009
18
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
19
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531)
2008
20
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. (18024964)
2008
21
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families. (17653040)
2007
22
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. (17960116)
2007
23
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. (17096061)
2007
24
Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). (18427632)
2007
25
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. (17220209)
2007
26
Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. (17063427)
2006
27
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. (16207214)
2005
28
Automated lamellar keratoplasty for recurrent granular corneal dystrophy after phototherapeutic keratectomy. (15977887)
2005
29
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (12824236)
2003
30
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. (12543196)
2002
31
Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. (10704529)
2000
32
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. (10218700)
1999
33
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (10612503)
1999
34
Recurrent macular corneal dystrophy type II 49 years after penetrating keratoplasty. (10206585)
1999
35
Granular corneal dystrophy: treatment with soft contact lenses. (9561363)
1998
36
Phototherapeutic keratectomy for map-dot-fingerprint corneal dystrophy. (9820937)
1998
37
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations. (9541117)
1998
38
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. (9799082)
1998
39
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. (8145387)
1993
40
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. (1319113)
1992
41
The pathology of posterior amorphous corneal dystrophy. (2314832)
1990
42
Recurrence of posterior polymorphous corneal dystrophy after penetrating keratoplasty. (2309866)
1990
43
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. (2946233)
1986
44
Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. (2951638)
1986
45
Lattice corneal dystrophy: a source of confusion. (6603867)
1983
46
Bilateral recurrence of macular corneal dystrophy (Fehr or Groenouw type II) after penetrating keratoplasty. (387145)
1978
47
Recurrence of macular corneal dystrophy after lamellar keratoplasty. (333919)
1977
48
Macular corneal dystrophy. Studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures. (143892)
1977
49
Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. (4265065)
1973
50
Histochemistry of corneal macular dystrophy. (4186541)
1969

Genetic Variations for Corneal Dystrophy

Expression for genes affiliated with Corneal Dystrophy

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

Search GEO for disease gene expression data for Corneal Dystrophy.

Pathways for genes affiliated with Corneal Dystrophy

Sources:
54Reactome
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Pathways related to Corneal Dystrophy according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Corneal Dystrophy

Sources:
45Novoseek
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Compounds related to Corneal Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1keratan sulfate4510.4CHST6, DCN

GO Terms for genes affiliated with Corneal Dystrophy

Sources:
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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Sources for Corneal 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