KC
MCID: KRT007
MIFTS: 51

Keratoconus (KC) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Keratoconus

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Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 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 uk 383367 and hocl have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related mouse phenotype immune system.

Wikipedia:66 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:
63UMLS, 9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 59SNOMED-CT, 41NCIt, 28ICD9CM, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

keratoconus 9 44 11 46 63
noninflammatory corneal thining 44
keratoconjunctivitis sicca 63
kc 44


External Ids:

Disease Ontology9 DOID:10126
NCIt41 C26806
ICD9CM28 371.6, 371.60
MeSH36 D007640
ICD1026 H18.6

Related Diseases for Keratoconus

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Keratoconus 1 family:

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

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

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy30.7KRT3, VSX1
2leber congenital amaurosis30.4AIPL1, GUCY2D
3peritonitis30.4CTSG, MMP8
4arthritis29.8CTSB, CTSG
5blindness29.8GUCY2D, TIMP3, AIPL1
6rheumatoid arthritis29.6CTSB, CTSG, MMP8, SOD3, TIMP3
7astigmatism10.6
8corneal ectasia10.4
9pellucid marginal degeneration10.4
10keratoconus posticus circumscriptus10.4
11keratoconus 110.4
12endotheliitis10.4
13keratoconjunctivitis10.4
14cataract10.3
15vernal keratoconjunctivitis10.3
16refractive error10.3
17corneal edema10.3
18keratopathy10.3
19retinitis10.3
20keratitis10.2
21macular corneal dystrophy10.2
22stable condition keratoconus10.2
23acute hydrops keratoconus10.2
24type vi ehlers-danlos syndrome10.2
25irregular astigmatism10.2
26myopia10.2
27mental retardation, keratoconus, febrile seizures, and sinoatrial block10.2
28mental retardation10.2
29sjogren's syndrome10.1
30dry eye syndrome10.1
31fuchs' endothelial dystrophy10.1
32coloboma10.1
33bullous keratopathy10.1
34conjunctivitis10.1
35corneal degeneration10.1
36exotropia10.1
37sleep apnea10.1
38atopy10.1
39keratoconus 410.1
40keratoconus 310.1
41keratoconus 210.1
42wegener's granulomatosis10.1CTSG
43pulmonary emphysema10.0MMP8, CTSG
44gingivitis10.0CTSG, MMP8
45bronchiectasis10.0MMP8, CTSG
46partial central choroid dystrophy10.0TIMP3, GUCY2D
47rubella10.0
48williams-beuren syndrome10.0
49mitral valve prolapse10.0
50vernal conjunctivitis10.0

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
34MalaCards
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MalaCards organs/tissues related to Keratoconus:

34
Eye, Endothelial, Testes

Animal Models for Keratoconus or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Keratoconus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0CTSB, CTSG, MMP8, MMP10, SOD3, TIMP3

Publications for Keratoconus

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Sources:
53PubMed
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Articles related to Keratoconus:

(show top 50)    (show all 665)
idTitleAuthorsYear
1
Recurrent non-tuberculous mycobacterial keratitis after deep anterior lamellar keratoplasty for keratoconus. (24136909)
2013
2
Evaluation of intrastromal corneal ring segments for treatment of keratoconus with a mechanical implantation technique. (23571258)
2013
3
Keratoconus and corneal stability after radial keratectomy in the fellow eye: case report. (23929084)
2013
4
Increased expression of secreted frizzled-related protein-1 and microtubule-associated protein light chain 3 in keratoconus. (23449484)
2013
5
Expression of SFRP Family Proteins in Human Keratoconus Corneas. (23825088)
2013
6
Is consanguinity a risk factor for keratoconus? (23584486)
2013
7
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus. (23833071)
2013
8
Acute red eye (non-ulcerative keratitis) associated with mini-scleral contact lens wear for keratoconus. (23387325)
2013
9
Changes in corneal sensation and ocular surface in patients with asymmetrical keratoconus. (23146931)
2013
10
Effective corneal collagen crosslinking in advanced cases of progressive keratoconus. (23711873)
2013
11
Keratoconus corneal architecture after riboflavin/ultraviolet A cross-linking: ultrastructural studies. (23878503)
2013
12
RGP contact lens fitting in keratoconus using FITSCAN technology. (23276713)
2013
13
Assessment of corneal topography indices after collagen crosslinking for keratoconus. (23483510)
2013
14
Screening subclinical keratoconus with placido-based corneal indices. (23376898)
2013
15
Pellucid marginal degeneration and keratoconus; differential diagnosis by corneal topography. (23688900)
2013
16
An association between the calpastatin (CAST) gene and keratoconus. (23449483)
2013
17
Central and peripheral corneal thinning in keratoconus. (22562062)
2013
18
Long-term outcomes of penetrating keratoplasty for keratoconus with resolved corneal hydrops. (22236783)
2012
19
What causes keratoconus? (22406940)
2012
20
Keratoconus onset after age 50. (22692526)
2012
21
Evaluation of corneal hysteresis and corneal resistance factor after corneal cross-linking for keratoconus. (22189856)
2012
22
Adrenal myelolipoma with keratoconus: A novel clinical association. (23565430)
2012
23
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
24
Achondroplasia associated with bilateral keratoconus. (23259098)
2012
25
Outcomes of deep anterior lamellar keratoplasty for keratoconus: learning curve and advantages of the big bubble technique. (22495029)
2012
26
Toric intraocular lens in keratoconus. (22316653)
2012
27
Prevalence and associations of steep cornea/keratoconus in Greater Beijing. The Beijing Eye Study. (22792169)
2012
28
Pentacam-based big bubble deep anterior lamellar keratoplasty in patients with keratoconus. (22357390)
2012
29
Bilateral corneal ulceration in keratoconus. (23034295)
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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Sources:
2BioGPS, 16Gene 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:
51PathCards, 13EMD Millipore, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN
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Compounds for genes affiliated with Keratoconus

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Sources:
62Tocris Bioscience, 46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB
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Compounds related to Keratoconus according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1uk 3833676210.1MMP10, MMP8
2hocl4610.1CTSG, MMP8
3gi 254023x6210.1MMP10, MMP8
4gm 60016210.1MMP10, MMP8
5clostripain4610.0CTSB, CTSG
6chymotrypsinogen4610.0CTSB, CTSG
7marimastat46 62 1212.0MMP8, MMP10
8phosphonate4610.0CTSG, MMP8
9nh4cl469.9CTSG, CTSB
10carboxylate469.9CTSB, CTSG
11(4-aminophenyl)mercuric acetate469.8CTSG, MMP8, MMP10
12xanthine46 2510.7SOD3, MMP8, CTSG
13batimastat46 62 1211.6MMP8, MMP10, TIMP3
14heparan sulfate46 2510.5TIMP3, SOD3, CTSG
15matrigel469.4CTSB, MMP10, TIMP3
16methionine469.3CTSG, SOD3, TIMP3
17fibrinogen469.3MMP8, CTSG, CTSB
18urea46 25 1211.3SOD3, MMP8, CTSG, CTSB
19h2o2469.2SOD3, MMP8, CTSG, CTSB
20paraffin469.2CTSB, CTSG, TIMP3
21heparin46 30 25 1212.1CTSB, CTSG, SOD3, TIMP3
22nitric oxide46 25 1211.0SOD3, MMP8, CTSG, CTSB
23alanine469.0SOD3, MMP8, CTSG, CTSB
24arginine468.8TIMP3, SOD3, KRT3, CTSG, CTSB
25vegf468.8TIMP3, SOD3, MMP10, MMP8, CTSB
26cysteine468.7TIMP3, SOD3, MMP8, CTSG, CTSB
27serine468.6GUCY2D, SOD3, MMP10, MMP8, CTSG, CTSB
28oxygen46 259.6CTSB, MMP8, SOD3, TIMP3
29retinoic acid46 259.5TIMP3, MMP8, CTSG, CTSB
30calcium46 52 25 1211.4GUCY2D, TIMP3, MMP10, MMP8, CTSG, CTSB

GO Terms for genes affiliated with Keratoconus

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310128.9SOD3, CTSG, TIMP3
2extracellular regionGO:0055768.6SOD3, MMP10, MMP8, CTSG, CTSB
3extracellular spaceGO:0056158.5CTSG, SOD3, MMP10, CTSB, MMP8

Biological processes related to Keratoconus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.1VSX1, TIMP3, GUCY2D, AIPL1
2extracellular matrix disassemblyGO:0226179.0CTSG, MMP10, MMP8, CTSB
3collagen catabolic processGO:0305749.0MMP8, CTSB, MMP10
4extracellular matrix organizationGO:0301989.0MMP10, CTSG, CTSB, MMP8
5proteolysisGO:0065088.9CTSB, MMP10, MMP8, CTSG

Products for genes affiliated with Keratoconus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keratoconus

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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