MCID: KRT007
MIFTS: 45

Keratoconus malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Keratoconus

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Keratoconus, Aliases & Descriptions:

Name: Keratoconus 30 9 41 11 43 60
Noninflammatory Corneal Thining 41
Keratoconjunctivitis Sicca 60
 
Conical Cornea 9
Kc 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:10126
ICD9CM27 371.6
MeSH33 D007640
NCIt38 C26806
ICD1025 H18.6

Summaries for Keratoconus

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NIH Rare Diseases:41 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 based summary: Keratoconus, also known as noninflammatory corneal thining, is related to corneal dystrophy and leber congenital amaurosis. An important gene associated with Keratoconus is VSX1 (visual system homeobox 1), and among its related pathways are Selected targets of C EBPalpha and Cell adhesion ECM remodeling. The compounds gm 6001 and hocl have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related mouse phenotype immune system.

Disease Ontology:9 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.

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

Related Diseases for Keratoconus

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Diseases in the Keratoconus family:

Keratoconus 4 Keratoconus 3
Keratoconus 5 Keratoconus 6
Keratoconus 7 Keratoconus 8
Keratoconus 2 Keratoconus 1

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.2VSX1, KRT3
2leber congenital amaurosis30.8GUCY2D, AIPL1
3peritonitis30.5MMP8, CTSG
4arthritis30.0CTSG, CTSB
5cone-rod dystrophy29.8AIPL1, GUCY2D, TIMP3
6blindness29.8AIPL1, GUCY2D, TIMP3
7retinitis pigmentosa autosomal recessive29.7TIMP3, GUCY2D, AIPL1
8pneumonia29.6SOD3, MMP8, CTSG, CTSB
9rheumatoid arthritis28.9TIMP3, SOD3, MMP8, CTSG, CTSB
10astigmatism10.6
11corneal ectasia10.5
12endotheliitis10.5
13keratoconus 110.5
14pellucid marginal degeneration10.4
15keratoconus posticus circumscriptus10.4
16keratoconus 510.4
17keratoconus 610.4
18cataract10.4
19keratoconjunctivitis10.4
20keratoconus 710.3
21keratoconus 810.3
22refractive error10.3
23vernal keratoconjunctivitis10.3
24wegener granulomatosis10.3CTSG
25corneal edema10.3
26retinitis10.3
27keratoconus 410.2
28keratoconus 310.2
29keratoconus 210.2
30keratitis10.2
31keratopathy10.2
32stable condition keratoconus10.2
33acute hydrops keratoconus10.2
34mental retardation, keratoconus, febrile seizures, and sinoatrial block10.2
35pulmonary emphysema10.2CTSG, MMP8
36macular corneal dystrophy10.2
37irregular astigmatism10.2
38corneal degeneration10.2
39myopia10.2
40sleep apnea10.2
41mental retardation10.2
42sjogren's syndrome10.2
43dry eye syndrome10.2
44gingivitis10.2CTSG, MMP8
45bronchiectasis10.1CTSG, MMP8
46ehlers-danlos syndrome, type vi10.1
47atopy10.1
48fuchs' endothelial dystrophy10.1
49coloboma10.1
50bullous keratopathy10.1

Graphical network of the top 20 diseases related to Keratoconus:



Diseases related to keratoconus

Symptoms for Keratoconus

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Drugs & Therapeutics for Keratoconus

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Drug clinical trials:

Search ClinicalTrials for Keratoconus

Search NIH Clinical Center for Keratoconus

Genetic Tests for Keratoconus

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Anatomical Context for Keratoconus

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MalaCards organs/tissues related to Keratoconus:

31
Eye, Endothelial, Testes

Animal Models for Keratoconus or affiliated genes

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MGI Mouse Phenotypes related to Keratoconus:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0CTSB, CTSG, MMP8, MMP10, SOD3, TIMP3

Publications for Keratoconus

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Articles related to Keratoconus:

(show top 50)    (show all 712)
idTitleAuthorsYear
1
Corneal collagen crosslinking for keratoconus or corneal ectasia without epithelial debridement. (25853446)
2015
2
Photorefractive keratectomy in mild to moderate keratoconus: Outcomes in over 40-year-old patients. (25827548)
2015
3
Gross cystic disease fluid protein-15/prolactin-inducible protein as a biomarker for keratoconus disease. (25405607)
2014
4
Association between diabetes and keratoconus: a case-control study. (25343697)
2014
5
Recurrent non-tuberculous mycobacterial keratitis after deep anterior lamellar keratoplasty for keratoconus. (24136909)
2013
6
Evaluation of intrastromal corneal ring segments for treatment of keratoconus with a mechanical implantation technique. (23571258)
2013
7
Keratoconus and corneal stability after radial keratectomy in the fellow eye: case report. (23929084)
2013
8
Increased expression of secreted frizzled-related protein-1 and microtubule-associated protein light chain 3 in keratoconus. (23449484)
2013
9
Expression of SFRP Family Proteins in Human Keratoconus Corneas. (23825088)
2013
10
Is consanguinity a risk factor for keratoconus? (23584486)
2013
11
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus. (23833071)
2013
12
Acute red eye (non-ulcerative keratitis) associated with mini-scleral contact lens wear for keratoconus. (23387325)
2013
13
Changes in corneal sensation and ocular surface in patients with asymmetrical keratoconus. (23146931)
2013
14
Effective corneal collagen crosslinking in advanced cases of progressive keratoconus. (23711873)
2013
15
Keratoconus corneal architecture after riboflavin/ultraviolet A cross-linking: ultrastructural studies. (23878503)
2013
16
RGP contact lens fitting in keratoconus using FITSCAN technology. (23276713)
2013
17
Assessment of corneal topography indices after collagen crosslinking for keratoconus. (23483510)
2013
18
Screening subclinical keratoconus with placido-based corneal indices. (23376898)
2013
19
Long-term outcomes of penetrating keratoplasty for keratoconus with resolved corneal hydrops. (22236783)
2012
20
What causes keratoconus? (22406940)
2012
21
Keratoconus onset after age 50. (22692526)
2012
22
Evaluation of corneal hysteresis and corneal resistance factor after corneal cross-linking for keratoconus. (22189856)
2012
23
Adrenal myelolipoma with keratoconus: A novel clinical association. (23565430)
2012
24
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
25
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
26
Outcomes of deep anterior lamellar keratoplasty for keratoconus: learning curve and advantages of the big bubble technique. (22495029)
2012
27
Toric intraocular lens in keratoconus. (22316653)
2012
28
Prevalence and associations of steep cornea/keratoconus in Greater Beijing. The Beijing Eye Study. (22792169)
2012
29
Pentacam-based big bubble deep anterior lamellar keratoplasty in patients with keratoconus. (22357390)
2012
30
Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. (21676910)
2011
31
Corneal thickness changes after corneal collagen crosslinking for keratoconus and corneal ectasia: one-year results. (21420594)
2011
32
Comparison of astigmatism correction using shorter arc length 90A^/120A^ asymmetric intacs severe keratoconus versus 150A^ single-segment intacs severe keratoconus in asymmetric keratoconus. (21926565)
2011
33
Influence of contact lens wear on the results of ultraviolet A/riboflavin cross-linking for progressive keratoconus. (21795286)
2011
34
Intrastromal corneal ring segments and posterior chamber phakic intraocular lens implantation for keratoconus correction. (21420596)
2011
35
Herpetic keratitis after corneal collagen cross-linking with riboflavin and ultraviolet-A for progressive keratoconus. (22139351)
2011
36
Secreted frizzled-related protein 1 (SFRP1) is highly upregulated in keratoconus epithelium: a novel finding highlighting a new potential focus for keratoconus research and treatment. (20447100)
2010
37
VSX1 gene variants are associated with keratoconus in unrelated Korean patients. (18626569)
2008
38
No VSX1 gene mutations associated with keratoconus. (16799019)
2006
39
Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5. (15790884)
2005
40
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. (14985379)
2004
41
Microarray analysis identified differentially expressed genes in keratocytes from keratoconus patients. (15512944)
2004
42
VSX1: a gene for posterior polymorphous dystrophy and keratoconus. (11978762)
2002
43
Association of keratoconus and MAPbius' syndrome. (11201920)
2001
44
Recurrent keratoconus in a patient with Leber congenital amaurosis. (10832707)
2000
45
Pellucid marginal corneal degeneration 12 years after penetrating keratoplasty for keratoconus. (9520207)
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
Acute corneal edema in pellucid marginal degeneration or acute marginal keratoconus. (3315452)
1987
49
Keratoconus and acute hydrops in mentally retarded patients with congenital rubella syndrome. (7468739)
1981
50
The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. (13711210)
1961

Variations for Keratoconus

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Expression for genes affiliated with Keratoconus

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Search GEO for disease gene expression data for Keratoconus.

Pathways for genes affiliated with Keratoconus

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Pathways related to Keratoconus according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Metalloproteases in connective tissue degradation
9.3MMP10, MMP8, TIMP3
2
Show member pathways
9.0CTSB, MMP10, MMP8, CTSG
3
Show member pathways
8.9TIMP3, MMP10, MMP8, CTSG

Compounds for genes affiliated with Keratoconus

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Compounds related to Keratoconus according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
1gm 60015910.1MMP8, MMP10
2hocl4310.1MMP8, CTSG
3uk 3833675910.1MMP8, MMP10
4gi 254023x5910.1MMP10, MMP8
5chymotrypsinogen4310.0CTSB, CTSG
6clostripain4310.0CTSB, CTSG
7marimastat43 59 1212.0MMP8, MMP10
8phosphonate4310.0MMP8, CTSG
9nh4cl439.9CTSG, CTSB
10carboxylate439.9CTSB, CTSG
11(4-aminophenyl)mercuric acetate439.8MMP10, CTSG, MMP8
12xanthine43 2410.7MMP8, CTSG, SOD3
13batimastat43 59 1211.6TIMP3, MMP10, MMP8
14heparan sulfate43 2410.5CTSG, SOD3, TIMP3
15matrigel439.4CTSB, MMP10, TIMP3
16methionine439.3SOD3, TIMP3, CTSG
17fibrinogen439.3CTSB, MMP8, CTSG
18urea43 24 1211.3SOD3, CTSB, CTSG, MMP8
19h2o2439.2CTSB, CTSG, MMP8, SOD3
20paraffin439.2CTSG, CTSB, TIMP3
21heparin43 28 24 1212.1TIMP3, SOD3, CTSG, CTSB
22nitric oxide43 24 1211.0SOD3, CTSB, MMP8, CTSG
23alanine439.0CTSG, MMP8, SOD3, CTSB
24arginine438.8TIMP3, SOD3, KRT3, CTSG, CTSB
25vegf438.8MMP8, CTSB, TIMP3, SOD3, MMP10
26cysteine438.7TIMP3, SOD3, MMP8, CTSG, CTSB
27serine438.6CTSB, CTSG, MMP8, MMP10, SOD3, GUCY2D
28oxygen43 249.6SOD3, TIMP3, CTSB, MMP8
29retinoic acid43 249.5TIMP3, MMP8, CTSG, CTSB
30calcium43 49 24 1211.4CTSG, CTSB, TIMP3, GUCY2D, MMP10, MMP8

GO Terms for genes affiliated with Keratoconus

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Cellular components related to Keratoconus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310128.9SOD3, CTSG, TIMP3
2extracellular regionGO:00055768.6SOD3, MMP10, MMP8, CTSG, CTSB
3extracellular spaceGO:00056158.5CTSG, SOD3, MMP10, CTSB, MMP8

Biological processes related to Keratoconus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.1VSX1, TIMP3, GUCY2D, AIPL1
2extracellular matrix disassemblyGO:00226179.0CTSG, MMP10, MMP8, CTSB
3collagen catabolic processGO:00305749.0MMP8, CTSB, MMP10
4extracellular matrix organizationGO:00301989.0MMP10, CTSG, CTSB, MMP8
5proteolysisGO:00065088.9CTSB, MMP10, MMP8, CTSG

Products for genes affiliated with Keratoconus

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  • Antibodies
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  • Antibodies
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  • Kits and Assays

Sources for Keratoconus

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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