MCID: CRN025
MIFTS: 46

Corneal Dystrophy malady

Genetic diseases (common), Eye diseases categories
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Summaries for Corneal Dystrophy

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Wikipedia:65 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 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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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 25ICD10
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Corneal Dystrophy, Aliases & Descriptions:

Name: Corneal Dystrophy 8 20 22 10 44 62
Hereditary Corneal Dystrophy 8 62
 
Corneal Dystrophies Hereditary 44


Classifications:

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


External Ids:

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

Related Diseases for Corneal Dystrophy

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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 dystrophy31.3VSX1, COL8A2, ZEB1
3amyloidosis corneal30.8TACSTD2, TGFBI
4recurrent corneal erosion30.6KRT12, TGFBI
5keratoconus30.5TGFBI, COL8A2, VSX1, KRT12
6corneal edema30.2SLC4A11, 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
14epithelial basement membrane corneal dystrophy10.6
15groenouw type i corneal dystrophy10.6
16posterior amorphous corneal dystrophy10.6
17corneal dystrophy of bowman layer type 110.6
18corneal dystrophy thiel behnke type10.6
19fuchs' endothelial dystrophy10.6
20corneal dystrophy crystalline of schnyder10.6
21amyloidosis10.5
22corneal dystrophy fuchs endothelial 110.5
23cataract10.5
24corneal dystrophy and perceptive deafness10.5
25corneal dystrophy, fuchs endothelial, 410.5
26corneal dystrophy fuchs endothelial 210.5
27lattice corneal dystrophy type 3a10.5
28spinocerebellar degeneration and corneal dystrophy10.5
29corneal fleck dystrophy10.5
30corneal dystrophy, posterior polymorphous, 110.5
31corneal dystrophy, lisch epithelial10.5
32corneal dystrophy, endothelial, x-linked10.5
33subepithelial mucinous corneal dystrophy10.5
34pre-descemet corneal dystrophy10.4
35chandler syndrome10.4
36central discoid corneal dystrophy10.4
37finnish type amyloidosis10.3
38corneodermatoosseous syndrome10.3
39corneal dystrophy, fuchs endothelial, 610.3
40corneal endothelial dystrophy and perceptive deafness10.3
41spastic ataxia - corneal dystrophy10.3
42pachyonychia congenita10.2
43bietti crystalline corneoretinal dystrophy10.2
44tyrosinemia type ii10.2
45corneal deposit10.2
46myopia10.2
47familial amyloidosis, finnish type10.2
48fish-eye disease10.2
49rutherfurd syndrome10.2
50corneal endothelial dystrophy 2, autosomal recessive10.2

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:

32
Endothelial, Eye, Kidney, Skin, Testes

Animal Models for Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy:

36
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 695)
idTitleAuthorsYear
1
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. (25168903)
2014
2
Fuchs endothelial corneal dystrophy: clinical characteristics of surgical and nonsurgical patients. (25228793)
2014
3
Transethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene With Fuchs' Corneal Dystrophy in Chinese Implies Common Causal Variant. (25298419)
2014
4
Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments. (25321938)
2014
5
Lattice corneal dystrophy type 1: an epithelial or stromal entity? (25055147)
2014
6
Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family. (23569037)
2013
7
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene. (23455751)
2013
8
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy. (22967865)
2013
9
Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. (23369486)
2013
10
Unilateral posterior polymorphous corneal dystrophy associated with ipsilateral anisometropic amblyopia. (25313553)
2013
11
Culture of human corneal endothelial cells isolated from corneas with Fuchs endothelial corneal dystrophy. (22134119)
2012
12
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. (23288988)
2012
13
Impaired autophagy and delayed autophagic clearance of transforming growth factor I^-induced protein (TGFBI) in granular corneal dystrophy type 2. (22995918)
2012
14
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. (22367041)
2012
15
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. (21617530)
2011
16
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. (22065921)
2011
17
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization. (21541270)
2011
18
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies. (21288032)
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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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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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet