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 Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. 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
Meta-analysis of Pentacam vs. ultrasound pachymetry in central corneal thickness measurement in normal, post-LASIK or PRK, and keratoconic or keratoconus-suspect eyes. (24218039)
2014
2
MICS with toric intraocular lenses in keratoconus: outcomes and predictability analysis of postoperative refraction. (24390170)
2014
3
Interaction between topographic/tomographic parameters and dry eye disease in keratoconus patients. (23768195)
2014
4
Expression of SFRP Family Proteins in Human Keratoconus Corneas. (23825088)
2013
5
An association between the calpastatin (CAST) gene and keratoconus. (23449483)
2013
6
Correlation between Corneal Topographic Indices and Higher-Order Aberrations in Keratoconus. (23943685)
2013
7
Current status of corneal collagen cross-linking for keratoconus: a review. (23414201)
2013
8
Central corneal regularization--optimization of uncorrected visual acuity in keratoconus patients. (23629772)
2013
9
Transepithelial riboflavin/ultraviolet. a corneal cross-linking in keratoconus: morphologic studies on human corneas. (23972311)
2013
10
The corneal endothelium after keratoplasty for keratoconus. (23350715)
2013
11
Keratoconus: the arc of past, present and future. (23496654)
2013
12
The early history of keratoconus prior to Nottingham's landmark 1854 treatise on conical cornea: a review. (23414219)
2013
13
Update on corneal cross-linking for keratoconus. (24391374)
2013
14
Effects of vernal and allergic conjunctivitis on severity of keratoconus. (23826535)
2013
15
Permanent visual loss in eyes with keratoconus. (23910953)
2013
16
Anatomical and functional graft survival, 10 years after epikeratoplasty in keratoconus. (23275216)
2013
17
Alterations of tear mediators in patients with keratoconus after corneal crosslinking associate with corneal changes. (24124547)
2013
18
Evaluation of corneal elevation and thickness indices in pellucid marginal degeneration and keratoconus. (23107832)
2013
19
Update on the keratoconus genetics. (22471291)
2013
20
Screening for subclinical keratoconus. (23772117)
2013
21
Transepithelial corneal collagen crosslinking for progressive keratoconus: 24-month clinical results. (23790530)
2013
22
New clinical pathways for keratoconus. (23258309)
2013
23
Evaluation of corneal hysteresis and corneal resistance factor after corneal cross-linking for keratoconus. (22189856)
2012
24
Bilateral corneal ulceration in keratoconus. (23034295)
2012
25
Keratoconus patients at Jordan University Hospital: a descriptive study. (23204831)
2012
26
Repeat keratoplasty for keratoconus. (22551610)
2012
27
Comparison of deep anterior lamellar keratoplasty and intrastromal corneal ring segment implantation in advanced keratoconus. (22322167)
2012
28
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. (22045297)
2012
29
Corneal changes in progressive keratoconus after cross-linking assessed by Scheimpflug camera. (22947293)
2012
30
Combination of corneal crosslinking and intrastromal corneal ring segments for the treatment of keratoconus. (22999627)
2012
31
Levels of lactoferrin, secretory IgA and serum albumin in the tear film of people with keratoconus. (22197752)
2012
32
Keratoconus in 18 pairs of twins. (22682160)
2012
33
Corneal collagen cross-linking demarcation line depth assessed by Visante OCT After CXL for keratoconus and corneal ectasia. (22767165)
2012
34
Sequential intrastromal corneal ring implantation and cataract surgery in a severe keratoconus patient with cataract. (22670082)
2012
35
Corneal changes after suspending contact lens wear in early pellucid marginal corneal degeneration and moderate keratoconus. (21336035)
2011
36
Incidence and characteristics of unilateral keratoconus classified on corneal topography. (21563729)
2011
37
Corneal biomechanical evaluation in healthy thin corneas compared with matched keratoconus cases. (21670900)
2011
38
Quantification of the surgically induced refractive effect of intrastromal corneal ring segments in keratoconus with standardized incision site and segment size. (21930047)
2011
39
Early biomechanical keratoconus pattern measured with an ocular response analyzer: curve analysis. (21978610)
2011
40
Outcomes of deep anterior lamellar keratoplasty versus intralase enabled penetrating keratoplasty in keratoconus. (21995982)
2011
41
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. (19407021)
2009
42
Bilateral keratoconus with oculocutaneous albinism. (18797083)
2008
43
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. (18216574)
2008
44
Keratoconus associated with corneal granular dystrophy in a patient of Italian origin. (11805523)
2002
45
Intraoperative cauterization of the cornea can reduce postkeratoplasty refractive error in patients with keratoconus. (9709768)
1998
46
Abnormalities of the extracellular matrix in keratoconus corneas. (9143810)
1997
47
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
48
A comparison between donor-recipient corneal size and its effect on the ultimate refractive error induced in keratoconus. (8306661)
1993
49
Effect of recipient-donor trephine size disparity on refractive error in keratoconus. (2652028)
1989
50
Acute corneal edema in pellucid marginal degeneration or acute marginal keratoconus. (3315452)
1987

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.7TIMP1, CTSG, MMP14, MMP10, MMP8
2
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10.7MMP8, MMP10, MMP14, CTSG, TIMP1
3
Cell adhesion ECM remodeling
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10.7TIMP1, TIMP3, MMP14, MMP10, MMP8
4
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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 1113.0MMP8, MMP10, MMP14, TIMP3, TIMP1
2vegf4411.0TIMP1, TIMP3, SOD3, MMP14, MMP10, MMP8
3(4-aminophenyl)mercuric acetate4411.0TIMP1, CTSG, MMP10, MMP8
4marimastat44 59 1113.0TIMP1, MMP14, MMP10, MMP8
5cysteine4410.9TIMP1, TIMP3, SOD3, CTSG, MMP14, MMP8
6hocl4410.9MMP8, CTSG, TIMP1
7uk 3833675910.9MMP14, MMP10, MMP8
8gi 254023x5910.9MMP14, MMP10, MMP8
9gm 60015910.9MMP14, MMP10, MMP8
10serine4410.9TIMP1, SOD3, CTSG, GUCY2D, MMP14, MMP10
11matrigel4410.9TIMP1, TIMP3, MMP14, MMP10
121,10-phenanthroline44 211.9TIMP1, TIMP3, MMP14
1312-o-tetradecanoylphorbol 13-acetate4410.9MMP10, MMP14, TIMP3, TIMP1
14xanthine44 2411.9MMP8, CTSG, SOD3
15hydroxamate4410.9MMP8, MMP14
16glycosaminoglycan4410.8TIMP1, TIMP3, MMP8
17grgdsp4410.7MMP14, TIMP1
18p0024410.7MMP8, MMP14, TIMP1
19paraffin4410.6MMP14, CTSG, TIMP3, TIMP1
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:02261710.8MMP8, MMP10, MMP14, CTSG, TIMP1
2extracellular matrix organizationGO:03019810.7TIMP1, CTSG, MMP14, MMP10, MMP8
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