KC
MCID: KRT007
MIFTS: 46

Keratoconus (KC) malady

Eye category

Summaries for Keratoconus

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 blindness. 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.

Wikipedia:64 Keratoconus (from Greek: kerato- horn, cornea; and konos cone) is a degenerative disorder of the eye in... more...

Aliases & Classifications for Keratoconus

Sources:
61UMLS, 8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 57SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

keratoconus 8 43 10 45 61
noninflammatory corneal thining 43
keratoconjunctivitis sicca 61
kc 43


External Ids:

Disease Ontology8 DOID:10126
ICD9CM27 371.6, 371.60
MeSH35 D007640
NCIt40 C26806
ICD1025 H18.6

Related Diseases for Keratoconus

Sources:
17GeneCards, 18GeneDecks
See all sources

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 155)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.4AIPL1, GUCY2D
2blindness29.7AIPL1, GUCY2D, TIMP3
3arthritis29.7TIMP1, CTSG
4astigmatism10.5
5keratoconus 110.5
6sjogren's syndrome10.5
7corneal ectasia10.5
8acute hydrops keratoconus10.5
9pellucid marginal degeneration10.5
10keratoconus posticus circumscriptus10.4
11graft versus host disease10.3
12rosacea10.3
13erythema multiforme10.3
14achalasia10.3
15uveitis10.3
16sj�gren syndrome10.3
17adrenocortical insufficiency10.3
18vernal keratoconjunctivitis10.3
19fuchs' endothelial dystrophy10.3
20macular corneal dystrophy10.2
21macular dystrophy10.2
22bone fracture10.2
23cutaneous lupus erythematosus10.2
24primary biliary cirrhosis10.2
25ocular albinism10.2
26acute dacryocystitis10.2
27juvenile rheumatoid arthritis10.2
28superficial keratitis10.2
29chronic graft versus host disease10.2
30lichen sclerosus10.2
31iris hypoplasia10.2
32fibromyalgia10.2
33subacute cutaneous lupus erythematosus10.2
34type vi ehlers-danlos syndrome10.2
35irregular astigmatism10.2
36stable condition keratoconus10.2
37sleep apnea10.2
38keratoconus 310.2
39keratoconus 210.2
40coloboma10.1
41bullous keratopathy10.1
42vernal conjunctivitis10.1
43cone dystrophy10.1
44mental retardation, keratoconus, febrile seizures, and sinoatrial block10.1
45mental retardation10.1
46atopy10.1
47keratoconus 410.1
48keratoconus 510.1
49gastroparesis10.0
50ovarian epithelial cancer10.0

Graphical network of the top 20 diseases related to Keratoconus:



Diseases related to keratoconus

Clinical Features for Keratoconus

Drugs & Therapeutics for Keratoconus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Keratoconus

Animal Models for Keratoconus or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Keratoconus

Sources:
51PubMed
See all sources

Articles related to Keratoconus:

(show top 50)    (show all 671)
idTitleAuthorsYear
1
Association between mediators in the tear fluid and the severity of keratoconus. (24247644)
2014
2
Impact of keratoconus in the better eye and the worse eye on vision-related quality of life. (24398095)
2014
3
Protection of corneal epithelial stem cells prevents ultraviolet A damage during corneal collagen cross-linking treatment for keratoconus. (24288393)
2014
4
Is consanguinity a risk factor for keratoconus? (23584486)
2013
5
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus. (23833071)
2013
6
Effective corneal collagen crosslinking in advanced cases of progressive keratoconus. (23711873)
2013
7
Keratoconus corneal architecture after riboflavin/ultraviolet A cross-linking: ultrastructural studies. (23878503)
2013
8
Which soft contact lens power is better for piggyback fitting in keratoconus? (23108009)
2013
9
Biomechanical evaluation of cornea in topographically normal relatives of patients with keratoconus. (22677642)
2013
10
Toric implantable collamer lens for keratoconus. (23925337)
2013
11
Changes in anterior and posterior corneal parameters in patients with keratoconus after intrastromal corneal-ring segment implantation. (23806046)
2013
12
Safety and visual outcome of Visian toric ICL implantation after corneal collagen cross-linking in keratoconus. (23380407)
2013
13
Persistent corneal edema after collagen cross-linking for keratoconus. (23521904)
2013
14
A Case of Unusual Coexistence of Keratoconus and Optic Disc Pit. (24171805)
2013
15
Topographic progression of keratoconus in the Korean population. (23730107)
2013
16
Changes in corneal endothelial cell profile measurements after deep anterior lamellar keratoplasty for keratoconus. (23132448)
2013
17
Polymorphisms of the homologous recombination gene RAD51 in keratoconus and Fuchs endothelial corneal dystrophy. (24223453)
2013
18
Influence of corneal cross-linking for keratoconus on several objective parameters of dry eye. (24016346)
2013
19
Corneal collagen cross-linking with riboflavin and ultraviolet a irradiation for keratoconus: long-term results. (23583165)
2013
20
Keratoconus in Costello syndrome. (23494969)
2013
21
Corneal confocal microscopy following conventional, transepithelial, and accelerated corneal collagen cross-linking procedures for keratoconus. (23347370)
2012
22
Downregulation of I^-actin gene and human antigen R in human keratoconus. (22562506)
2012
23
Depth profile study of abnormal collagen orientation in keratoconus corneas. (22332225)
2012
24
In vivo biomechanical changes after corneal collagen cross-linking for keratoconus and corneal ectasia: 1-year analysis of a randomized, controlled, clinical trial. (21993470)
2012
25
Corneal biomechanical properties and anterior segment parameters in forme fruste keratoconus. (22865401)
2012
26
Persistent corneal edema after collagen cross-linking for keratoconus. (22959362)
2012
27
Effects of contact lenses on the ocular surface in patients with keratoconus: piggyback versus ClearKone hybrid lenses. (22157394)
2012
28
Elevated intraocular pressure in the early postoperative period following excimer laser penetrating keratoplasty for keratoconus. (23356820)
2012
29
Transepithelial cross-linking in keratoconus patients: confocal analysis. (22940781)
2012
30
Characterization of corneal structure in keratoconus. (23195256)
2012
31
Comparison of dynamic contour tonometry and Goldmann applanation tonometry in keratoconus. (21716097)
2011
32
Toric Intraocular Lens in Keratoconus. (22197779)
2011
33
Acute hydrops in a host cornea after penetrating keratoplasty for keratoconus. (21617957)
2011
34
Mitochondrial complex 1 gene analysis in keratoconus. (21691575)
2011
35
Assessment of keratocyte density in patients with keratoconus not using contact lenses. (21490530)
2011
36
What's in a name: keratoconus, pellucid marginal degeneration, and related thinning disorders. (21708379)
2011
37
Contact lenses in the management of keratoconus. (21993461)
2011
38
A novel VSX1 mutation identified in an individual with keratoconus in India. (19956409)
2009
39
Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells. (17679946)
2007
40
Keratoconus is not associated with mutations in COL8A1 and COL8A2. (17721297)
2007
41
Keratoconus: matrix metalloproteinase-2 activation and TIMP modulation. (16516444)
2006
42
EMMPRIN and MMP-1 in keratoconus. (16633034)
2006
43
Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder. (15811017)
2005
44
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. (14985379)
2004
45
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. (10711674)
2000
46
Pellucid marginal corneal degeneration 12 years after penetrating keratoplasty for keratoconus. (9520207)
1998
47
Molecular genetic analysis in autosomal dominant keratoconus. (1358551)
1992
48
Sterile corneal perforation after cataract surgery in keratoconus posticus circumscriptus. (3843344)
1985
49
Vernal keratoconjunctivitis and keratoconus. (6846462)
1983
50
Histopathology of keratoconus posticus circumscriptus. (14001685)
1963

Genetic Variations for Keratoconus

Expression for genes affiliated with Keratoconus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore
See all sources

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
Hide members
10.7MMP8, MMP10, MMP14, TIMP3, TIMP1

Compounds for genes affiliated with Keratoconus

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 2BitterDB, 24HMDB, 50PharmGKB
See all sources

Compounds related to Keratoconus according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1batimastat45 60 1113.0MMP8, MMP10, MMP14, TIMP3, TIMP1
2vegf4511.0TIMP1, TIMP3, SOD3, MMP14, MMP10, MMP8
3(4-aminophenyl)mercuric acetate4511.0TIMP1, CTSG, MMP10, MMP8
4marimastat45 60 1113.0TIMP1, MMP14, MMP10, MMP8
5cysteine4510.9TIMP1, TIMP3, SOD3, CTSG, MMP14, MMP8
6hocl4510.9MMP8, CTSG, TIMP1
7uk 3833676010.9MMP14, MMP10, MMP8
8gi 254023x6010.9MMP14, MMP10, MMP8
9gm 60016010.9MMP14, MMP10, MMP8
10serine4510.9TIMP1, SOD3, CTSG, GUCY2D, MMP14, MMP10
11matrigel4510.9TIMP1, TIMP3, MMP14, MMP10
121,10-phenanthroline45 211.9TIMP1, TIMP3, MMP14
1312-o-tetradecanoylphorbol 13-acetate4510.9MMP10, MMP14, TIMP3, TIMP1
14xanthine45 2411.9MMP8, CTSG, SOD3
15hydroxamate4510.9MMP8, MMP14
16glycosaminoglycan4510.8TIMP1, TIMP3, MMP8
17grgdsp4510.7MMP14, TIMP1
18p0024510.7MMP8, MMP14, TIMP1
19paraffin4510.6MMP14, CTSG, TIMP3, TIMP1
20pmsf4510.5CTSG
21urea45 11 2412.5SOD3, CTSG, MMP8
22clodronate45 50 1112.3MMP8, MMP14

GO Terms for genes affiliated with Keratoconus

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keratoconus

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet