KC
MCID: KRT007
MIFTS: 50

Keratoconus (KC) malady

Eye diseases category

Summaries for Keratoconus

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. in this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. most people who develop keratoconus start out nearsighted, which tends to become worse over time. the cause is unknown, but the tendency to develop keratoconus is probably present from birth. keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. some researchers believe that allergy and eye rubbing may play a role. last updated: 6/21/2011

MalaCards: Keratoconus, also known as noninflammatory corneal thining, is related to leber congenital amaurosis and peritonitis. An important gene associated with Keratoconus is VSX1 (visual system homeobox 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. The compounds batimastat and vegf have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes.

Wikipedia:63 Keratoconus (from Greek: kerato- horn, cornea; and konos cone) is a degenerative disorder of the eye in... more...

Aliases & Classifications for Keratoconus

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Sources:
60UMLS, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

keratoconus 8 42 10 44 60
noninflammatory corneal thining 42
keratoconjunctivitis sicca 60
kc 42


External Ids:

Disease Ontology8 DOID:10126
ICD9CM27 371.6, 371.60
MeSH34 D007640
NCIt39 C26806
ICD1025 H18.6

Related Diseases for Keratoconus

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Keratoconus:



Diseases related to keratoconus

Clinical Features for Keratoconus

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Drugs & Therapeutics for Keratoconus

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Keratoconus

Drug clinical trials:

Search ClinicalTrials for Keratoconus

Search NIH Clinical Center for Keratoconus

Search CenterWatch for Keratoconus

Genetic Tests for Keratoconus

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Anatomical Context for Keratoconus

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Sources:
32MalaCards
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MalaCards organs/tissues related to Keratoconus:

32
Eye, Endothelial, Testes

Animal Models for Keratoconus or affiliated genes

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Publications for Keratoconus

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Sources:
50PubMed
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Articles related to Keratoconus:

(show top 50)    (show all 671)
idTitleAuthorsYear
1
Clinical performance of a new hybrid contact lens for keratoconus. (24296956)
2014
2
Relationship Between IL1I^-511C>T and ILRN VNTR Polymorphisms and Keratoconus. (24322806)
2014
3
RGP contact lens fitting in keratoconus using FITSCAN technology. (23276713)
2013
4
Four discriminant models for detecting keratoconus pattern using Zernike coefficients of corneal aberrations. (23982213)
2013
5
A Multivariate Analysis and Statistical Model for Predicting Visual Acuity and Keratometry One Year After Cross-linking for Keratoconus. (24211861)
2013
6
Visian toric ICL implantation after intracorneal ring segments implantation and corneal collagen crosslinking in keratoconus. (24242218)
2013
7
Wavefront-guided scleral lens prosthetic device for keratoconus. (23478630)
2013
8
Impact of collagen cross-linking for keratoconus on corneal sensitivity. (23665650)
2013
9
Intrasubject repeatability in keratoconus-eye measurements obtained with a new Scheimpflug photography-based system. (23218818)
2013
10
Proteomic and gene expression patterns of keratoconus. (23925320)
2013
11
Intraocular lens power calculations in a patient with posterior keratoconus. (23449479)
2013
12
Histological findings in a failed corneal riboflavin-UVA collagen cross-linking performed for progressive keratoconus. (22820606)
2013
13
Comparison of intrastromal corneal ring segment implantation only and in combination with collagen crosslinking for keratoconus. (23483496)
2013
14
Evaluation of corneal microstructure in keratoconus: a confocal microscopy study. (23932262)
2013
15
Scheimpflug parameters after corneal collagen crosslinking for keratoconus. (23787458)
2013
16
Corneal cross-linking combined with intrastromal corneal ring implantation for progressive keratoconus. (23086376)
2013
17
What causes keratoconus? (22406940)
2012
18
Clinical and corneal biomechanical changes after collagen cross-linking with riboflavin and UV irradiation in patients with progressive keratoconus: results after 2 years of follow-up. (22378112)
2012
19
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
20
Pentacam-based big bubble deep anterior lamellar keratoplasty in patients with keratoconus. (22357390)
2012
21
Evaluation of total and corneal wavefront high order aberrations for the detection of forme fruste keratoconus. (22427590)
2012
22
Pellucid-like keratoconus. (24358811)
2012
23
Epidemiology of keratoconus in an Iranian population. (22710491)
2012
24
Two-year corneal cross-linking results in patients younger than 18 years with documented progressive keratoconus. (22633357)
2012
25
Intracorneal ring segment in keratoconus: a model to predict visual changes induced by the surgery. (23169881)
2012
26
Corneal biomechanical changes after intracorneal ring segment implantation in keratoconus. (22314819)
2012
27
Evaluation of collagen crosslinking in keratoconus eyes with Kera intracorneal ring implantation. (21786268)
2012
28
Implantable collamer lenses after intracorneal ring segments for keratoconus. (22581308)
2012
29
Graft biomechanical properties after penetrating keratoplasty in keratoconus. (22357385)
2012
30
The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population. (22575726)
2012
31
Management of keratoconus. (23505596)
2012
32
Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. (21676910)
2011
33
Simultaneous topography-guided photorefractive keratectomy followed by corneal collagen cross-linking for keratoconus. (21794846)
2011
34
Patient-specific computational modeling of keratoconus progression and differential responses to collagen cross-linking. (22039252)
2011
35
Cataract surgery with toric intraocular lens implantation in keratoconus: a case report. (21562460)
2011
36
Mutation altering the miR-184 seed region causes familial keratoconus with cataract. (21996275)
2011
37
Topography-guided conductive keratoplasty for keratoconus. (21616213)
2011
38
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. (20029656)
2009
39
Alterations of extracellular matrix components and proteinases in human corneal buttons with INTACS for post-laser in situ keratomileusis keratectasia and keratoconus. (18520507)
2008
40
Molecular analysis of the VSX1 gene in familial keratoconus. (17960127)
2007
41
Cleft palate and keratoconus in a child affected by fetal alcohol syndrome: an accidental association? (17214526)
2007
42
Superior keratoconus with inferior paracentral corneal thinning and inferior peripheral pellucid marginal degeneration. (16858442)
2007
43
SOD1: a candidate gene for keratoconus. (16877401)
2006
44
Keratoconus and corneal ectasia after LASIK. (16329368)
2005
45
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. (16084784)
2005
46
Treatment of irregular astigmatism and keratoconus with the VISX C-CAP method. (12881653)
2003
47
Spontaneous corneal hydrops and perforation in keratoconus and pellucid marginal degeneration. (12605056)
2003
48
The association of HLA with young-onset keratoconus in Japan. (11931792)
2002
49
Normal expression levels of cathepsins, protease inhibitors, and Sp1 in conjunctival tissues from patients with keratoconus. (11262610)
2000
50
Over-expression of a gelatinase A activity in keratoconus. (7498560)
1995

Genetic Variations for Keratoconus

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Expression for genes affiliated with Keratoconus

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keratoconus

Search GEO for disease gene expression data for Keratoconus.

Pathways for genes affiliated with Keratoconus

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore
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Pathways related to Keratoconus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.7MMP8, MMP10, MMP14, CTSG, TIMP1
2
Hide members
10.7MMP8, MMP10, MMP14, CTSG, TIMP1
3
Hide members
10.7MMP8, MMP10, MMP14, TIMP3, TIMP1
4
Cell adhesion ECM remodeling
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10.7MMP8, MMP10, MMP14, TIMP3, TIMP1

Compounds for genes affiliated with Keratoconus

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB
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Compounds related to Keratoconus according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1batimastat44 59 1113.0TIMP1, TIMP3, MMP14, MMP10, MMP8
2vegf4411.0MMP8, MMP10, MMP14, SOD3, TIMP3, TIMP1
3(4-aminophenyl)mercuric acetate4411.0CTSG, MMP8, MMP10, TIMP1
4marimastat44 59 1113.0MMP10, MMP14, MMP8, TIMP1
5cysteine4410.9MMP14, CTSG, SOD3, TIMP3, TIMP1, MMP8
6hocl4410.9CTSG, MMP8, TIMP1
7gm 60015910.9MMP8, MMP10, MMP14
8uk 3833675910.9MMP10, MMP8, MMP14
9gi 254023x5910.9MMP14, MMP10, MMP8
10serine4410.9CTSG, SOD3, MMP14, TIMP1, GUCY2D, MMP8
11matrigel4410.9TIMP3, MMP10, TIMP1, MMP14
121,10-phenanthroline44 211.9TIMP3, TIMP1, MMP14
1312-o-tetradecanoylphorbol 13-acetate4410.9TIMP1, TIMP3, MMP14, MMP10
14xanthine44 2411.9SOD3, CTSG, MMP8
15hydroxamate4410.9MMP8, MMP14
16glycosaminoglycan4410.8TIMP1, TIMP3, MMP8
17grgdsp4410.7MMP14, TIMP1
18p0024410.7TIMP1, MMP14, MMP8
19paraffin4410.6CTSG, TIMP3, TIMP1, MMP14
20pmsf4410.5CTSG
21urea44 11 2412.5SOD3, CTSG, MMP8
22clodronate44 49 1112.3MMP8, MMP14

GO Terms for genes affiliated with Keratoconus

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16Gene Ontology
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Cellular components related to Keratoconus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:03101210.6MMP14, CTSG, SOD3, TIMP3

Biological processes related to Keratoconus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:02261710.8MMP10, TIMP1, CTSG, MMP8, MMP14
2extracellular matrix organizationGO:03019810.7MMP14, MMP8, CTSG, TIMP1, MMP10
3collagen catabolic processGO:03057410.6MMP8, MMP10, MMP14
4negative regulation of membrane protein ectodomain proteolysisGO:05104510.5TIMP3, TIMP1
5visual perceptionGO:00760110.4TIMP3, GUCY2D, AIPL1, VSX1

Molecular functions related to Keratoconus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00422210.6MMP8, MMP10, MMP14
2metalloendopeptidase inhibitor activityGO:00819110.3TIMP3, TIMP1

Products for genes affiliated with Keratoconus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keratoconus

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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