KC
MCID: KRT007
MIFTS: 53

Keratoconus (KC) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Keratoconus

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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 based summary: Keratoconus, also known as conical cornea, 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.

Disease Ontology:8 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.

Wikipedia:65 Keratoconus (from Greek: kerato- horn, cornea; and konos cone) is a degenerative disorder of the eye in... more...

Descriptions from OMIM:46 608932, 609271, 614628, 614622, 614629 614623, 148300, 608586 more

Aliases & Classifications for Keratoconus

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Keratoconus, Aliases & Descriptions:

Name: Keratoconus 30 8 42 10 44 62
Conical Cornea 8 62
Noninflammatory Corneal Thining 42
 
Keratoconjunctivitis Sicca 62
Kc 42


Classifications:

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


External Ids:

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

Related Diseases for Keratoconus

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Diseases in the Keratoconus family:

Keratoconus 1 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 153)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.1KRT3, VSX1
2leber congenital amaurosis30.8AIPL1, GUCY2D
3peritonitis30.5CTSG, MMP8
4arthritis30.0CTSB, CTSG
5blindness29.8GUCY2D, TIMP3, AIPL1
6pneumonia29.6CTSG, MMP8, SOD3, CTSB
7rheumatoid arthritis28.9CTSB, CTSG, MMP8, SOD3, TIMP3
8astigmatism10.6
9corneal ectasia10.5
10endotheliitis10.5
11pellucid marginal degeneration10.4
12keratoconus posticus circumscriptus10.4
13keratoconus 110.4
14cataract10.4
15keratoconjunctivitis10.4
16wegener's granulomatosis10.3CTSG
17vernal keratoconjunctivitis10.3
18refractive error10.3
19keratopathy10.3
20corneal edema10.3
21retinitis10.3
22keratitis10.2
23pulmonary emphysema10.2MMP8, CTSG
24macular corneal dystrophy10.2
25irregular astigmatism10.2
26acute hydrops keratoconus10.2
27stable condition keratoconus10.2
28myopia10.2
29sleep apnea10.2
30mental retardation, keratoconus, febrile seizures, and sinoatrial block10.2
31mental retardation10.2
32gingivitis10.2CTSG, MMP8
33sjogren's syndrome10.2
34dry eye syndrome10.2
35bronchiectasis10.2MMP8, CTSG
36type vi ehlers-danlos syndrome10.1
37mitral valve prolapse10.1
38coloboma10.1
39fuchs' endothelial dystrophy10.1
40bullous keratopathy10.1
41conjunctivitis10.1
42corneal degeneration10.1
43exotropia10.1
44atopy10.1
45keratoconus 410.1
46keratoconus 310.1
47keratoconus 510.1
48keratoconus 610.1
49keratoconus 710.1
50keratoconus 810.1

Graphical network of the top 20 diseases related to Keratoconus:



Diseases related to keratoconus

Symptoms for Keratoconus

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Clinical features from OMIM:

608932,609271,614628,614622,614629,614623,148300,608586

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:

32
Eye, Endothelial, Testes

Animal Models for Keratoconus or affiliated genes

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MGI Mouse Phenotypes related to Keratoconus:

36
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 692)
idTitleAuthorsYear
1
Gross cystic disease fluid protein-15/prolactin-inducible protein as a biomarker for keratoconus disease. (25405607)
2014
2
Association between diabetes and keratoconus: a case-control study. (25343697)
2014
3
Recurrent non-tuberculous mycobacterial keratitis after deep anterior lamellar keratoplasty for keratoconus. (24136909)
2013
4
Evaluation of intrastromal corneal ring segments for treatment of keratoconus with a mechanical implantation technique. (23571258)
2013
5
Keratoconus and corneal stability after radial keratectomy in the fellow eye: case report. (23929084)
2013
6
Increased expression of secreted frizzled-related protein-1 and microtubule-associated protein light chain 3 in keratoconus. (23449484)
2013
7
Expression of SFRP Family Proteins in Human Keratoconus Corneas. (23825088)
2013
8
Is consanguinity a risk factor for keratoconus? (23584486)
2013
9
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus. (23833071)
2013
10
Acute red eye (non-ulcerative keratitis) associated with mini-scleral contact lens wear for keratoconus. (23387325)
2013
11
Changes in corneal sensation and ocular surface in patients with asymmetrical keratoconus. (23146931)
2013
12
Effective corneal collagen crosslinking in advanced cases of progressive keratoconus. (23711873)
2013
13
Keratoconus corneal architecture after riboflavin/ultraviolet A cross-linking: ultrastructural studies. (23878503)
2013
14
RGP contact lens fitting in keratoconus using FITSCAN technology. (23276713)
2013
15
Assessment of corneal topography indices after collagen crosslinking for keratoconus. (23483510)
2013
16
Screening subclinical keratoconus with placido-based corneal indices. (23376898)
2013
17
Pellucid marginal degeneration and keratoconus; differential diagnosis by corneal topography. (23688900)
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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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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Compounds for genes affiliated with Keratoconus

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Compounds related to Keratoconus according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1uk 3833676110.1MMP10, MMP8
2hocl4410.1CTSG, MMP8
3gi 254023x6110.1MMP10, MMP8
4gm 60016110.1MMP10, MMP8
5clostripain4410.0CTSB, CTSG
6chymotrypsinogen4410.0CTSB, CTSG
7marimastat44 61 1112.0MMP8, MMP10
8phosphonate4410.0CTSG, MMP8
9nh4cl449.9CTSG, CTSB
10carboxylate449.9CTSB, CTSG
11(4-aminophenyl)mercuric acetate449.8CTSG, MMP8, MMP10
12xanthine44 2410.7SOD3, MMP8, CTSG
13batimastat44 61 1111.6MMP8, MMP10, TIMP3
14heparan sulfate44 2410.5TIMP3, SOD3, CTSG
15matrigel449.4CTSB, MMP10, TIMP3
16methionine449.3CTSG, SOD3, TIMP3
17fibrinogen449.3MMP8, CTSG, CTSB
18urea44 24 1111.3SOD3, MMP8, CTSG, CTSB
19h2o2449.2SOD3, MMP8, CTSG, CTSB
20paraffin449.2CTSB, CTSG, TIMP3
21heparin44 28 24 1112.1CTSB, CTSG, SOD3, TIMP3
22nitric oxide44 24 1111.0SOD3, MMP8, CTSG, CTSB
23alanine449.0SOD3, MMP8, CTSG, CTSB
24arginine448.8TIMP3, SOD3, KRT3, CTSG, CTSB
25vegf448.8TIMP3, SOD3, MMP10, MMP8, CTSB
26cysteine448.7TIMP3, SOD3, MMP8, CTSG, CTSB
27serine448.6GUCY2D, SOD3, MMP10, MMP8, CTSG, CTSB
28oxygen44 249.6CTSB, MMP8, SOD3, TIMP3
29retinoic acid44 249.5TIMP3, MMP8, CTSG, CTSB
30calcium44 50 24 1111.4GUCY2D, TIMP3, MMP10, MMP8, CTSG, CTSB

GO Terms for genes affiliated with Keratoconus

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Cellular components related to Keratoconus according to GeneCards/GeneDecks:

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

Biological processes related to Keratoconus according to GeneCards/GeneDecks:

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

Products for genes affiliated with Keratoconus

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet