MCID: CRN025
MIFTS: 38

Corneal Dystrophy malady

Genetic diseases (common), Eye diseases categories

Aliases & Classifications for Corneal Dystrophy

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Sources:
9Disease Ontology, 20GeneTests, 11DISEASES, 43Novoseek, 22GTR, 60UMLS, 55SNOMED-CT, 27ICD9CM, 38NCIt, 33MeSH, 25ICD10
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Corneal Dystrophy, Aliases & Descriptions:

Name: Corneal Dystrophy 9 20 11 43 22 60
Hereditary Corneal Dystrophy 9 60
 
Corneal Dystrophies Hereditary 43


Classifications:

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


External Ids:

Disease Ontology9 DOID:2566
ICD9CM27 371.5, 371.50
NCIt38 C34512
MeSH33 D003317
ICD1025 H18.5

Summaries for Corneal Dystrophy

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

MalaCards based summary: Corneal Dystrophy, also known as hereditary corneal dystrophy, is related to lattice corneal dystrophy and corneal dystrophy, gelatinous drop-like. An important gene associated with Corneal Dystrophy is CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2). Affiliated tissues include endothelial, eye and kidney, and related mouse phenotypes are tumorigenesis and vision/eye.

Related Diseases for Corneal Dystrophy

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Diseases related to Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy31.4TGFBI, TACSTD2
2corneal dystrophy, gelatinous drop-like30.8TACSTD2, TGFBI
3corneal dystrophy, posterior polymorphous, 130.8VSX1, COL8A2, ZEB1
4recurrent corneal erosion30.6KRT12, TGFBI
5keratoconus30.5TGFBI, COL8A2, VSX1, KRT12
6corneal edema30.0SLC4A11, VSX1
7macular corneal dystrophy11.0
8endotheliitis10.9
9meesmann corneal dystrophy10.9
10corneal dystrophy, lattice type i10.8
11corneal dystrophy, avellino type10.7
12corneal dystrophy, congenital stromal10.7
13lattice corneal dystrophy type ii10.7
14corneal dystrophy, thiel-behnke type10.7
15corneal dystrophy, groenouw type i10.7
16corneal dystrophy, reis-bucklers type10.7
17corneal dystrophy, epithelial basement membrane10.6
18posterior amorphous corneal dystrophy10.6
19fuchs' endothelial dystrophy10.6
20corneal endothelial dystrophy and perceptive deafness10.6
21spinocerebellar degeneration and corneal dystrophy10.6
22amyloidosis10.6
23corneal dystrophy, fuchs endothelial, 110.5
24corneal dystrophy, fuchs endothelial, 210.5
25corneal dystrophy, schnyder type10.5
26corneal dystrophy, lattice type iiia10.5
27cataract10.5
28corneal dystrophy, endothelial, x-linked10.5
29corneal fleck dystrophy10.5
30corneal dystrophy, fuchs endothelial, 610.5
31corneal dystrophy, fuchs endothelial, 410.5
32subepithelial mucinous corneal dystrophy10.5
33corneal dystrophy, lisch epithelial10.4
34mousa al din al nassar syndrome10.4
35corneal dystrophy, fuchs endothelial, 510.4
36corneal dystrophy, posterior polymorphous, 310.4
37corneal dystrophy, fuchs endothelial, 310.4
38corneal dystrophy, posterior polymorphous 210.4
39corneodermatoosseous syndrome10.4
40pre-descemet corneal dystrophy10.4
41rutherfurd syndrome10.4
42corneal dystrophy, fuchs endothelial, 710.3
43corneal dystrophy, fuchs endothelial, 810.3
44chandler syndrome10.3
45corneal endothelial dystrophy type 210.3
46grayson-wilbrandt corneal dystrophy10.3
47honey-droplet corneal dystrophy10.3
48central cloudy dystrophy of francois10.3
49ehlers-danlos syndrome, type vi10.2
50bietti crystalline corneoretinal dystrophy10.2

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



Diseases related to corneal dystrophy

Symptoms for Corneal Dystrophy

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Drugs & Therapeutics for Corneal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy

Search NIH Clinical Center for Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

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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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MalaCards organs/tissues related to Corneal Dystrophy:

31
Endothelial, Eye, Kidney, Skin, Testes

Animal Models for Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1TACSTD2, ZEB1, TGFBI
2MP:00053917.8SLC4A11, KRT12, VSX1, COL8A2, ZEB1

Publications for Corneal Dystrophy

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Articles related to Corneal Dystrophy:

(show top 50)    (show all 704)
idTitleAuthorsYear
1
A novel proteotoxic stress associated mechanism for macular corneal dystrophy. (25597745)
2015
2
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. (25168903)
2014
3
Fuchs endothelial corneal dystrophy: clinical characteristics of surgical and nonsurgical patients. (25228793)
2014
4
Transethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene With Fuchs' Corneal Dystrophy in Chinese Implies Common Causal Variant. (25298419)
2014
5
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. (25321938)
2014
6
Lattice corneal dystrophy type 1: an epithelial or stromal entity? (25055147)
2014
7
Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family. (23569037)
2013
8
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
9
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. (22967865)
2013
10
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
11
Unilateral posterior polymorphous corneal dystrophy associated with ipsilateral anisometropic amblyopia. (25313553)
2013
12
Culture of human corneal endothelial cells isolated from corneas with Fuchs endothelial corneal dystrophy. (22134119)
2012
13
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. (23288988)
2012
14
Impaired autophagy and delayed autophagic clearance of transforming growth factor I^-induced protein (TGFBI) in granular corneal dystrophy type 2. (22995918)
2012
15
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. (22367041)
2012
16
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
17
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. (22065921)
2011
18
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization. (21541270)
2011
19
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. (20808945)
2010
20
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. (21203404)
2010
21
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (20357198)
2010
22
Evidence of oxidative stress in Schnyder corneal dystrophy. (20530186)
2010
23
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. (20202685)
2010
24
Deep anterior lamellar keratoplasty with melles technique for granular corneal dystrophy. (19158553)
2009
25
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
26
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
27
Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. (19011008)
2009
28
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (18172091)
2008
29
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
30
Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. (16888689)
2006
31
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
32
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
33
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. (16118514)
2005
34
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. (15234146)
2004
35
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
36
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. (15564760)
2004
37
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
38
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
39
BIGH3 mutation spectrum in corneal dystrophies. (11923233)
2002
40
An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. (12225829)
2002
41
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (10781519)
2000
42
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
43
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
44
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
45
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
46
A case of one eye with gelatinous drop-like corneal dystrophy and the other eye with band-shaped spheroidal corneal degeneration. (7746654)
1995
47
Juxtapapillary choroidal neovascular membrane in a patient with Paget's disease and lattice corneal dystrophy. (2477432)
1989
48
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. (2946233)
1986
49
Recurrence of lattice corneal dystrophy type 1 in the corneal grafts of two siblings. (6753590)
1982
50
Primary familial corneal amyloidosis (lattice corneal dystrophy). (5298242)
1967

Variations for Corneal Dystrophy

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Expression for genes affiliated with Corneal Dystrophy

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Search GEO for disease gene expression data for Corneal Dystrophy.

Pathways for genes affiliated with Corneal Dystrophy

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Compounds for genes affiliated with Corneal Dystrophy

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GO Terms for genes affiliated with Corneal Dystrophy

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Cellular components related to Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1COL8A2, TGFBI
2basement membraneGO:00056048.8COL8A2, TGFBI

Biological processes related to Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:00082839.1TACSTD2, ZEB1, TGFBI
2response to stimulusGO:00508968.9CYP4V2, TGFBI, VSX1
3visual perceptionGO:00076018.1TACSTD2, KRT12, VSX1, TGFBI, CYP4V2

Products for genes affiliated with Corneal Dystrophy

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet