MCID: CRN025
MIFTS: 45

Corneal Dystrophy malady

Genetic diseases (common), Eye diseases categories

Summaries for Corneal Dystrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 posterior polymorphous corneal dystrophy. 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.

Aliases & Classifications for Corneal Dystrophy

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9Disease Ontology, 21GeneTests, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 28ICD9CM, 26ICD10
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Classifications:

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


Aliases & Descriptions:

corneal dystrophy 9 21 23 11 46 63
hereditary corneal dystrophy 9 63
corneal dystrophies hereditary 46


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Disease Ontology9 DOID:2566
NCIt41 C34512
MeSH36 D003317
ICD9CM28 371.5, 371.50
ICD1026 H18.5

Related Diseases for Corneal Dystrophy

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18GeneCards, 19GeneDecks
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Diseases related to Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy31.5TGFBI, TACSTD2
2posterior polymorphous corneal dystrophy31.3ZEB1, VSX1, COL8A2
3amyloidosis corneal30.8TACSTD2, TGFBI
4keratoconus30.6VSX1, COL8A2, KRT12, TGFBI
5recurrent corneal erosion30.5KRT12, TGFBI
6corneal edema30.0SLC4A11, VSX1
7macular corneal dystrophy11.0
8endotheliitis10.9
9meesmann corneal dystrophy10.8
10congenital stromal corneal dystrophy10.7
11corneal dystrophy avellino type10.7
12lattice corneal dystrophy type 110.7
13lattice corneal dystrophy type ii10.7
14groenouw type i corneal dystrophy10.6
15corneal dystrophy of bowman layer type 110.6
16epithelial basement membrane corneal dystrophy10.6
17posterior amorphous corneal dystrophy10.6
18corneal dystrophy thiel behnke type10.6
19corneal dystrophy crystalline of schnyder10.6
20corneal dystrophy fuchs endothelial 110.5
21fuchs' endothelial dystrophy10.5
22amyloidosis10.5
23cataract10.5
24corneal dystrophy and perceptive deafness10.4
25lattice corneal dystrophy type 3a10.4
26spinocerebellar degeneration and corneal dystrophy10.4
27corneal fleck dystrophy10.4
28corneal dystrophy, lisch epithelial10.4
29corneal dystrophy, endothelial, x-linked10.4
30subepithelial mucinous corneal dystrophy10.4
31corneal dystrophy fuchs endothelial 210.4
32corneal dystrophy, hereditary polymorphous posterior10.4
33corneal endothelial dystrophy and perceptive deafness10.3
34pre-descemet corneal dystrophy10.3
35finnish type amyloidosis10.3
36chandler syndrome10.3
37glaucoma10.3
38corneodermatoosseous syndrome10.3
39spastic ataxia - corneal dystrophy10.3
40pachyonychia congenita10.2
41corneal deposit10.2
42myopia10.2
43corneal dystrophy, fuchs endothelial, 810.2
44grayson-wilbrandt corneal dystrophy10.2
45honey-droplet corneal dystrophy10.2
46juvenile glaucoma10.1
47type vi ehlers-danlos syndrome10.1
48bietti crystalline corneoretinal dystrophy10.1
49tyrosinemia type ii10.1
50corneal degeneration10.1

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy21 23 CYP4V2

Anatomical Context for Corneal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Corneal Dystrophy:

34
Endothelial, Eye, Kidney, Skin, Testes

Animal Models for Corneal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Corneal Dystrophy:

38
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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53PubMed
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Articles related to Corneal Dystrophy:

(show top 50)    (show all 656)
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
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
3
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. (22967865)
2013
4
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
5
Culture of human corneal endothelial cells isolated from corneas with Fuchs endothelial corneal dystrophy. (22134119)
2012
6
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. (23288988)
2012
7
Impaired autophagy and delayed autophagic clearance of transforming growth factor I^-induced protein (TGFBI) in granular corneal dystrophy type 2. (22995918)
2012
8
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. (22367041)
2012
9
Intraocular lens power calculations for cataract surgery after phototherapeutic keratectomy in granular corneal dystrophy type 2. (23062002)
2012
10
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
11
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. (22065921)
2011
12
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization. (21541270)
2011
13
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies. (21288032)
2011
14
Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese. (21659310)
2011
15
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. (20808945)
2010
16
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. (21203404)
2010
17
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (20357198)
2010
18
Evidence of oxidative stress in Schnyder corneal dystrophy. (20530186)
2010
19
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. (20202685)
2010
20
Deep anterior lamellar keratoplasty with melles technique for granular corneal dystrophy. (19158553)
2009
21
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
22
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). (19832730)
2009
23
Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. (19011008)
2009
24
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (18172091)
2008
25
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
26
Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. (17438387)
2007
27
Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. (16888689)
2006
28
Recurrence of lattice corneal dystrophy caused by incomplete removal of stroma after deep lamellar keratoplasty. (17001192)
2006
29
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. (17167402)
2006
30
Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy. (16015084)
2005
31
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. (16118514)
2005
32
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. (15234146)
2004
33
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592)
2004
34
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. (15564760)
2004
35
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. (12882775)
2003
36
A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. (12586172)
2003
37
BIGH3 mutation spectrum in corneal dystrophies. (11923233)
2002
38
An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. (12225829)
2002
39
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (10781519)
2000
40
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. (9787234)
1998
41
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. (9718332)
1998
42
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. (9886734)
1998
43
Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. (9657906)
1998
44
A case of one eye with gelatinous drop-like corneal dystrophy and the other eye with band-shaped spheroidal corneal degeneration. (7746654)
1995
45
Granular-lattice corneal dystrophy. (8053808)
1994
46
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
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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2BioGPS, 16Gene 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

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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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17Gene Ontology
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Cellular components related to Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.1COL8A2, TGFBI
2basement membraneGO:0056048.8COL8A2, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:0082839.1TACSTD2, ZEB1, TGFBI
2response to stimulusGO:0508968.9CYP4V2, TGFBI, VSX1
3visual perceptionGO:0076018.1TACSTD2, KRT12, VSX1, TGFBI, CYP4V2

Products for genes affiliated with Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet