KC
MCID: KRT007
MIFTS: 50

Keratoconus (KC)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Keratoconus

MalaCards integrated aliases for Keratoconus:

Name: Keratoconus 12 73 20 43 36 54 6 44 15 39 70 32
Kc 20 43 17
Conical Cornea 12 43
Noninflammatory Corneal Thining 20
Bulging Cornea 43

Classifications:



External Ids:

Disease Ontology 12 DOID:10126
KEGG 36 H00789
ICD9CM 34 371.6
MeSH 44 D007640
NCIt 50 C26806
SNOMED-CT 67 267733008
ICD10 32 H18.6
UMLS 70 C0022578

Summaries for Keratoconus

MedlinePlus Genetics : 43 Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye. In this condition, the cornea thins and bulges outward, eventually resembling a cone shape. These corneal abnormalities, which worsen over time, can lead to nearsightedness (myopia), blurred vision that cannot be improved with corrective lenses (irregular astigmatism), and vision loss.Other corneal changes typical of keratoconus that can be seen during an eye exam include iron deposits in the cornea that form a yellow-to-brownish ring, called the Fleischer ring, surrounding the colored part of the eye (iris). Affected individuals may also develop Vogt's striae, which are thin, vertical, white lines in the tissue at the back of the cornea.Keratoconus may affect only one eye at first, but eventually the corneas of both eyes become misshapen, although they might not be affected with the same severity. As keratoconus worsens, people with this condition can develop corneal scarring, often caused by exposure of the abnormally thin cornea to prolonged contact lens use or excessive eye rubbing.The eye changes characteristic of keratoconus typically begin in adolescence and slowly worsen until mid-adulthood at which point the shape of the cornea remains stable.

MalaCards based summary : Keratoconus, also known as kc, is related to keratoconus 1 and leber congenital amaurosis 1. An important gene associated with Keratoconus is KTCN2 (Keratoconus 2). The drugs Gabapentin and Flavin mononucleotide have been mentioned in the context of this disorder. Affiliated tissues include Eye, endothelial and thyroid.

Disease Ontology : 12 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.

GARD : 20 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 earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.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. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.

KEGG : 36 Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial.

Wikipedia : 73 Keratoconus (KC) is a disorder of the eye that results in progressive thinning of the cornea. This may... more...

Related Diseases for Keratoconus

Diseases in the Keratoconus family:

Keratoconus 1 Keratoconus 3
Keratoconus 2 Keratoconus 4
Keratoconus 5 Keratoconus 6
Keratoconus 8 Keratoconus 7
Keratoconus 9

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

(show top 50) (show all 435)
# Related Disease Score Top Affiliating Genes
1 keratoconus 1 33.2 ZNF469 VSX1 PROB1
2 leber congenital amaurosis 1 32.3 RPE65 GUCY2D CRX CRB1 AIPL1
3 leber congenital amaurosis 4 32.3 RPE65 GUCY2D CRX CRB1 AIPL1
4 leber congenital amaurosis 7 32.2 GUCY2D CRX CRB1 AIPL1
5 leber congenital amaurosis 6 32.2 GUCY2D CRX CRB1 AIPL1
6 leber congenital amaurosis 8 32.2 RPE65 GUCY2D CRX CRB1 AIPL1
7 leber plus disease 32.2 VSX1 RPE65 GUCY2D CRX CRB1 AIPL1
8 leber congenital amaurosis 2 32.2 RPE65 GUCY2D CRX CRB1 AIPL1
9 astigmatism 32.2 ZNF469 VSX1 KRT3 KERA ACP2
10 leber congenital amaurosis 12 32.0 RPE65 GUCY2D AIPL1
11 leber congenital amaurosis 16 32.0 GUCY2D CRB1 AIPL1
12 leber congenital amaurosis 9 32.0 RPE65 GUCY2D CRX CRB1 AIPL1
13 leber congenital amaurosis 10 32.0 RPE65 GUCY2D CRX CRB1 AIPL1
14 leber congenital amaurosis 3 32.0 RPE65 GUCY2D CRX CRB1 AIPL1
15 anterior segment dysgenesis 32.0 ZNF469 VSX1 MIR184 KERA
16 corneal ectasia 31.8 ZNF469 VSX1 TUBA3D KRT3 KERA
17 irregular astigmatism 31.7 ZNF469 VSX1 KRT3 KERA
18 corneal disease 31.6 ZNF469 VSX1 TUBA3D KRT3 KERA
19 regular astigmatism 31.4 ZNF469 VSX1
20 corneal edema 31.3 VSX1 KRT3 KERA
21 corneal dystrophy 31.3 VSX1 KRT3 KERA
22 yemenite deaf-blind hypopigmentation syndrome 31.2 RPE65 GUCY2D AIPL1
23 fuchs' endothelial dystrophy 31.1 ZNF469 VSX1 KRT3 KERA
24 corneal degeneration 31.0 VSX1 KRT3 KERA
25 pathologic nystagmus 30.8 RPE65 GUCY2D CRX CRB1 AIPL1
26 corneal endothelial dystrophy 30.7 ZNF469 VSX1 KRT3
27 macular dystrophy, corneal 30.6 KRT3 KERA
28 exotropia 30.5 RPE65 AIPL1
29 corneal ulcer 30.5 KRT3 KERA
30 achromatopsia 30.5 RPE65 GUCY2D CRX CRB1 AIPL1
31 macular degeneration, age-related, 1 30.4 RPE65 GUCY2D CRX CRB1
32 cone dystrophy 30.4 RPE65 GUCY2D CRX CRB1 AIPL1
33 retinal degeneration 30.4 RPE65 GUCY2D CRX CRB1 AIPL1
34 night blindness 30.3 RPE65 GUCY2D CRB1
35 color blindness 30.3 RPE65 GUCY2D AIPL1
36 congenital stationary night blindness 30.2 VSX1 RPE65 GUCY2D CRX CRB1 AIPL1
37 retinal disease 30.2 RPE65 GUCY2D CRX CRB1 AIPL1
38 nanophthalmos 30.2 RPE65 KERA CRB1
39 bardet-biedl syndrome 30.2 RPE65 GUCY2D CRX CRB1 AIPL1
40 stromal dystrophy 30.0 KRT3 KERA
41 fundus dystrophy 29.9 RPE65 GUCY2D CRX CRB1 AIPL1
42 keratoconus 9 11.5
43 keratoconus 6 11.4
44 keratoconus 5 11.4
45 keratoconus posticus circumscriptus 11.4
46 keratoconus 7 11.4
47 keratoconus 8 11.4
48 acute hydrops keratoconus 11.3
49 edict syndrome 11.2
50 keratoconus 2 11.2

Graphical network of the top 20 diseases related to Keratoconus:



Diseases related to Keratoconus

Symptoms & Phenotypes for Keratoconus

Drugs & Therapeutics for Keratoconus

Drugs for Keratoconus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Flavin mononucleotide Approved, Investigational Phase 4 146-17-8 643976
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
13 Psychotropic Drugs Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Neurotransmitter Agents Phase 4
16 Anticonvulsants Phase 4
17 Anti-Anxiety Agents Phase 4
18 Vitamin B9 Phase 4
19 Pharmaceutical Solutions Phase 4
20 Nutrients Phase 4
21 Trace Elements Phase 4
22 Micronutrients Phase 4
23 Ophthalmic Solutions Phase 4
24 Photosensitizing Agents Phase 4
25 Vitamin B Complex Phase 4
26 Vitamins Phase 4
27 Folate Phase 4
28 Dermatologic Agents Phase 4
29 Vitamin B2 Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Anti-Bacterial Agents Phase 4
32 Hormones Phase 4
33 Gastrointestinal Agents Phase 4
34 Antiemetics Phase 4
35 Hormone Antagonists Phase 4
36 glucocorticoids Phase 4
37 Antineoplastic Agents, Hormonal Phase 4
38 Anti-Inflammatory Agents Phase 4
39 BB 1101 Phase 4
40 Protective Agents Phase 4
41 Fluoroquinolones Phase 4
42 Methylprednisolone Acetate Phase 4
43 Neuroprotective Agents Phase 4
44
tannic acid Approved Phase 3 1401-55-4
45
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
46
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
47
Menthol Approved Phase 2, Phase 3 2216-51-5 16666
48 Anticoagulants Phase 3
49 Plasma Substitutes Phase 3
50 Blood Substitutes Phase 3

Interventional clinical trials:

(show top 50) (show all 233)
# Name Status NCT ID Phase Drugs
1 Comparison in Confocal Microscopy and Optical Coherence Tomography of Postoperative Morphological Changes of Keratoconus Treated by Cross-linking of Collagen in Accelerated Procedure and in Iontophoresis Procedure Unknown status NCT03429569 Phase 4 Cross linking
2 Pain Management in Corneal Collagen Crosslinking for Keratoconus: Prospective Randomized Study Completed NCT02867176 Phase 4 Gabapentin;Ketorolac
3 Epithelium-On Corneal Collagen Crosslinking for Keratoconus Completed NCT03245853 Phase 4 Riboflavin 5'-Phosphate
4 Effect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus Completed NCT02119039 Phase 4
5 Corneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Hypo-osmolar Riboflavin Solution in Thin Corneas Completed NCT01485211 Phase 4 cross-linking with hypo-osmolar riboflavin
6 Prospective Randomised Interventional Corneal Crosslinking Study Recruiting NCT04427956 Phase 4 Isotonic riboflavin;Hypotonic riboflavin
7 Intracanalicular Dexamethasone Insert for Post-Corneal Cross-Linking Inflammation and Pain- The LINK Study Recruiting NCT04168112 Phase 4 Dextenza;Prednisolone Acetate
8 Treatment of Keratectasia With Collagen Cross-Linking (CCL) at the Eye Departments of the University Hospital, North Norway in Tromsø and Ullevål University Hospital in Oslo Unknown status NCT00435799 Phase 2, Phase 3 Riboflavin/dextran eyedrops
9 Study of Safety and Efficacy of Photochemically Induced Collagen Cross-Linking at an Irradiance of 18 mW/cm2 as Constant or Pulsed Treatment in Eyes With Unstable Corneas Due to Keratoconus, Ectasia, or Post-Incisional Refractive Surgery Unknown status NCT02095730 Phase 3 Epithelium-On Riboflavin;Epithelium-Off Riboflavin
10 The Safety and Effectiveness of Collagen Cross Linking With Riboflavin and Ultraviolet-A Light in Progressive Mild and Moderate Grades of Keratoconus. Unknown status NCT00815256 Phase 3
11 Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus Unknown status NCT00371202 Phase 3
12 Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia Unknown status NCT03080077 Phase 3 Ricrolin+;Epi-Off
13 Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial Unknown status NCT01604135 Phase 3
14 A Study Evaluating the Safety and Efficacy of the KXL System With vibeX Rapid (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes Having Keratoconus and Post LASIK Ectasia Unknown status NCT02638376 Phase 3
15 iDesign Aberrometer for the Refractive Treatment of Early Keratoconus Unknown status NCT02613780 Phase 3
16 Treatment of Keratoconus Using Collagen Cross-Linking By Means of Topical Riboflavin and UV Light. Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
17 Safety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking in Eyes With Corneal Ectasia or Progressive Keratoconus Completed NCT00567671 Phase 2, Phase 3
18 Safety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking in Eyes With Progressive Keratoconus Completed NCT00647699 Phase 3 riboflavin ophthalmic solution
19 Deep Anterior Lamellar Keratoplasty by Big-Bubble Technique: Results and Complications Completed NCT00887900 Phase 3
20 Riboflavin Mediated Corneal Crosslinking for Stabilizing Progression of Keratoconus Completed NCT00626717 Phase 2, Phase 3
21 A Multi-Center, Randomized, Placebo-Controlled Evaluation of the Safety and Efficacy of the KXL System With VibeX (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01344187 Phase 3 riboflavin solution;placebo solution
22 Corneal Sensitivity Changes Following Cross-linking for Progressive Lower Stage Keratoconus Completed NCT01743443 Phase 2, Phase 3
23 A Phase III, Multi-center Study to Evaluate the Safety and Efficacy of Epithelium-on Corneal Collagen Cross-linking in Eyes With Progressive Keratoconus Completed NCT03442751 Phase 3 Paracel 1;Paracel Placebo;Paracel 2 R0185
24 A Randomized, Controlled Study of the Vedera™ KXS Microwave System With Corneal Collagen Cross-Linking Compared With Corneal Collagen Cross-Linking Alone for Eyes With Keratoconus Completed NCT01672814 Phase 3 riboflavin ophthalmic solution
25 A Multi-Center, Randomized, Placebo-Controlled Evaluation of the Safety and Efficacy of the KXL System With VibeX (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01643226 Phase 3 riboflavin solution;placebo solution
26 Endothelial Cell Loss Following Toric ICL Implantation for Correction of Myopia and Astigmatism After Penetrating Keratoplasty Completed NCT04457063 Phase 2, Phase 3
27 Effect-evaluation of an Accelerated Corneal Cross-linking Protocol With Different Riboflavin Solutions Completed NCT03187912 Phase 3 Riboflavin
28 Randomized Comparison of Standard vs. Accelerated Corneal Crosslinking for Treatment of Progressive Keratoconus or Ectasia Recruiting NCT03922542 Phase 2, Phase 3
29 The Additional Role of Supplemental Oxygen Therapy in Accelerated Corneal Collagen Cross-linking in Progressive Keratoconus. A Randomized Clinical Trial Recruiting NCT04343326 Phase 2, Phase 3
30 Phase III Study of Corneal Collagen Cross-linking Using Two Different Techniques. Recruiting NCT01708538 Phase 3 CXL
31 Effects of Corneal Anatomical Match Between Donor and Recipient During DALK Surgery on Final Visual and Refractive Outcomes in Patients With KCN: a Clinical Trial Recruiting NCT04130334 Phase 2, Phase 3
32 Randomized Study of Safety and Effectiveness of Corneal Collagen Crosslinking and Intacs for Treatment of Keratoconus and Corneal Ectasia Active, not recruiting NCT01112072 Phase 3 Riboflavin
33 Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin Active, not recruiting NCT01152541 Phase 3 Riboflavin/Dextran;Hypotonic Riboflavin
34 Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia Active, not recruiting NCT01464268 Phase 3 Riboflavin;Riboflavin
35 Randomized Study of Corneal Collagen Cross-Linking With the UV-X System for the Treatment of Keratectasia in Eyes With Intacs Compared to Eyes Without Intacs Enrolling by invitation NCT01081561 Phase 2, Phase 3 Riboflavin
36 Comparison of Corneal Collagen Cross-Linking Performed With "Epi-ON" Versus "Epi-OFF" Techniques in Eyes With Keratoconus and Other Corneal Ectatic Disorders Not yet recruiting NCT03858036 Phase 3 Ricrolin+
37 A Multi-Center, Randomized, Placebo-Controlled Evaluation of the Safety and Efficacy of the KXL System With VibeX (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes With Keratoconus Terminated NCT01972854 Phase 3 riboflavin solution;placebo solution
38 Safety and Effectiveness of the VEGA UV-A System for Corneal Collagen Cross-Linking in Eyes With Keratoconus Terminated NCT01190306 Phase 3 Riboflavin
39 Multi-Center, Randomized, Controlled Evaluation of the Safety & Efficacy of the KXL System With VibeX (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery Terminated NCT01459679 Phase 3 riboflavin ophthalmic solution
40 Long Term Safety and Effectiveness of the VEGA UV-A System for Corneal Collagen Cross-Linking in Eyes With Keratoconus or Post-Refractive Corneal Ectasia Terminated NCT01398852 Phase 3 Riboflavin
41 Topography Guided Excimer Laser Surface Ablation in Combination With Corneal Cross-linking (CCL) in Patients With Progressive Ectatic Corneal Disorders. Terminated NCT01682993 Phase 3
42 Corneal Collagen Cross-Linking for the Treatment of Progressive Keratoconus and Corneal Ectasia Withdrawn NCT00679666 Phase 2, Phase 3 Riboflavin;Placebo
43 Treatment of Keratoconus With Advanced Corneal Crosslinking-II Unknown status NCT02514200 Phase 2 Riboflavin
44 Adapted Fluence Settings for Corneal Collagen Cross-linking in Progressive Mild to Moderate Keratoconus Aged 18 to 30 Unknown status NCT02507362 Phase 1, Phase 2 riboflavin 0.1% combined with dextran 20 %
45 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
46 Safety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking for Compassionate Treatment in Pediatric Patients With Progressive Keratoconus Unknown status NCT00925327 Phase 2
47 UVA-Riboflavin Crosslinking Treatment of Corneal Ectasia Unknown status NCT01325298 Phase 2 Riboflavin;Riboflavin
48 A Randomized Study of Clinical and Structural Outcome of Corneal Collagen Crosslinking (CXL) With Conventional Versus Accelerated Ultraviolet-A Irradiation Using Riboflavin With Hydroxypropyl Methylcellulose (HPMC). Unknown status NCT02883478 Phase 1, Phase 2 riboflavin with hydroxypropyl methylcellulose
49 Behandling av Keratoconus Med "Cornea Collagen Cross-linking" Uten Hornhinneepitelfjerning Completed NCT01181219 Phase 2
50 Study of Surgical Methods for Keratoconus Completed NCT01809977 Phase 2

Search NIH Clinical Center for Keratoconus

Cochrane evidence based reviews: keratoconus

Genetic Tests for Keratoconus

Anatomical Context for Keratoconus

MalaCards organs/tissues related to Keratoconus:

40
Eye, Endothelial, Thyroid, Retina, Neutrophil, Skin, Thymus
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Keratoconus:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Corneal Stroma Keratocytes Affected by disease

Publications for Keratoconus

Articles related to Keratoconus:

(show top 50) (show all 6656)
# Title Authors PMID Year
1
Are proteinases the reason for keratoconus? 61 54
20373876 2010
2
Effects of Sp1 overexpression on cultured human corneal stromal cells. 54 61
19758310 2009
3
Histopathologic and immunohistochemical studies of keratoglobus. 61 54
19667340 2009
4
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. 61 54
19407021 2009
5
Keratectasia after laser in situ keratomileusis: a histopathologic and immunohistochemical study. 54 61
19064844 2008
6
The expression of human corneal MMP-2, MMP-9, proMMP-13 and TIMP-1 in bullous keratopathy and keratoconus. 61 54
19138000 2008
7
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. 54 61
18253095 2008
8
VSX1 gene variants are associated with keratoconus in unrelated Korean patients. 61 54
18626569 2008
9
Expression of Sp1 and KLF6 in the developing human cornea. 61 54
17893646 2007
10
Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells. 54 61
17679946 2007
11
Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and -3 may promote keratocyte apoptosis in keratoconus. 61 54
17449031 2007
12
Matrix metalloproteinases (MMP-8, MMP-9) and the tissue inhibitors of metalloproteinases (TIMP-1, TIMP-2) in patients with fungal keratitis. 54 61
17251814 2007
13
Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing. 54 61
17122109 2006
14
Molecular changes in selected epithelial proteins in human keratoconus corneas compared to normal corneas. 54 61
17200661 2006
15
No VSX1 gene mutations associated with keratoconus. 54 61
16799019 2006
16
Collagenolytic proteinases in keratoconus. 61 54
16783151 2006
17
EMMPRIN and MMP-1 in keratoconus. 54 61
16633034 2006
18
Keratoconus: matrix metalloproteinase-2 activation and TIMP modulation. 61 54
16516444 2006
19
Kruppel-like factor 6 (KLF6) affects the promoter activity of the alpha1-proteinase inhibitor gene. 61 54
16431954 2006
20
Proteome profiling of corneal epithelium and identification of marker proteins for keratoconus, a pilot study. 54 61
16083875 2006
21
Histopathological and immunohistochemical studies of lenticules after epikeratoplasty for keratoconus. 54 61
15965163 2005
22
Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. 61 54
15728537 2005
23
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 61 54
15623752 2005
24
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. 61 54
15249368 2004
25
Elements of the nitric oxide pathway can degrade TIMP-1 and increase gelatinase activity. 61 54
15105792 2004
26
Mapping of Sp1 regulation sites in the promoter of the human alpha1-proteinase inhibitor gene. 61 54
11967987 2002
27
Is the corneal degradation in keratoconus caused by matrix-metalloproteinases? 61 54
11778801 2001
28
Involvement of Sp1 elements in the promoter activity of genes affected in keratoconus. 54 61
11481261 2001
29
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. 61 54
11548141 2001
30
Cell density regulated expression of transcription factor Sp1 in corneal stromal cultures. 61 54
11428859 2001
31
[Immunohistochemistry research on keratoconus]. 54 61
12567751 2001
32
Normal expression levels of cathepsins, protease inhibitors, and Sp1 in conjunctival tissues from patients with keratoconus. 61 54
11262610 2000
33
Expression of membrane-type 1 matrix metalloproteinase (MT1-MMP) and MMP-2 in normal and keratoconus corneas. 61 54
11148603 2000
34
Matrix metalloproteinase 2: involvement in keratoconus. 54 61
11071029 2000
35
Decorin and biglycan of normal and pathologic human corneas. 61 54
9727420 1998
36
Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. 61 54
9620070 1998
37
Involvement of Sp1 elements in the promoter activity of the alpha1-proteinase inhibitor gene. 54 61
9545340 1998
38
Localization of TIMP-1, TIMP-2, TIMP-3, gelatinase A and gelatinase B in pathological human corneas. 61 54
9543631 1998
39
Expression of transcription factors in keratoconus, a cornea-thinning disease. 54 61
9196072 1997
40
The expression of tenascin and fibronectin in keratoconus, scarred and normal human cornea. 61 54
9143890 1997
41
Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas. 61 54
9040486 1997
42
Altered type VI collagen synthesis by keratoconus keratocytes in vitro. 61 54
8713119 1996
43
Over-expression of a gelatinase A activity in keratoconus. 61 54
7498560 1995
44
Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio. 54 61
8156782 1994
45
Characterization of a human corneal metalloproteinase inhibitor (TIMP-1). 54 61
7507419 1993
46
The therapeutic use of quercetin in ophthalmology: recent applications. 61
33561647 2021
47
Do Patients With Keratoconus Have Minimal Disease Knowledge? 61
32947405 2021
48
In Vivo Confocal Microscopy Findings in Bowman Layer Transplantation. 61
33079920 2021
49
Comparison of Visual and Tomographic Outcomes of Epithelium-On and Epithelium-Off Accelerated Corneal Crosslinking: A Longitudinal Study. 61
33079917 2021
50
Quantitative analysis of herpes simplex virus-1 transcript in suspected viral keratitis corneal buttons and its clinical significance. 61
33727446 2021

Variations for Keratoconus

ClinVar genetic disease variations for Keratoconus:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT1 NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV Uncertain significance 50262 rs387907358 GRCh37: 12:49375373-49375373
GRCh38: 12:48981590-48981590
2 PTK6 NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr) SNV Uncertain significance 545123 rs777792665 GRCh37: 20:62161533-62161533
GRCh38: 20:63530180-63530180
3 FZD2 NM_001466.4(FZD2):c.1238G>A (p.Arg413Gln) SNV Uncertain significance 545124 rs758351214 GRCh37: 17:42636294-42636294
GRCh38: 17:44558926-44558926
4 LRP6 NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser) SNV Uncertain significance 545126 rs1565521308 GRCh37: 12:12274080-12274080
GRCh38: 12:12121146-12121146
5 COL5A3 NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln) SNV Uncertain significance 545128 rs777027146 GRCh37: 19:10079353-10079353
GRCh38: 19:9968677-9968677
6 PIK3CG NM_001282426.2(PIK3CG):c.711del (p.Asp238fs) Deletion Uncertain significance 545129 rs767360862 GRCh37: 7:106508715-106508715
GRCh38: 7:106868270-106868270
7 NFATC3 NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln) SNV Uncertain significance 545130 rs772345934 GRCh37: 16:68215384-68215384
GRCh38: 16:68181481-68181481
8 DAB2IP NM_138709.2(DAB2IP):c.2387C>T (p.Pro796Leu) SNV Uncertain significance 545131 rs765361316 GRCh37: 9:124535566-124535566
GRCh38: 9:121773287-121773287
9 NF1 NM_000267.3(NF1):c.5194G>C (p.Val1732Leu) SNV Uncertain significance 545132 rs148540952 GRCh37: 17:29653259-29653259
GRCh38: 17:31326241-31326241
10 BUB1B-PAK6 , PAK6 NM_001276718.2(PAK6):c.1743+577C>A SNV Uncertain significance 545133 rs1407997977 GRCh37: 15:40566454-40566454
GRCh38: 15:40274253-40274253
11 VANGL1 NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu) SNV Uncertain significance 545125 rs1202230056 GRCh37: 1:116194075-116194075
GRCh38: 1:115651454-115651454
12 PPP3CC NM_001243975.1(PPP3CC):c.1199T>C (p.Met400Thr) SNV Uncertain significance 545127 rs1563790727 GRCh37: 8:22389795-22389795
GRCh38: 8:22532282-22532282
13 ZNF469 NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) SNV Uncertain significance 126928 rs273585623 GRCh37: 16:88500057-88500057
GRCh38: 16:88433649-88433649
14 VSX1 NM_014588.5(VSX1):c.173C>T (p.Pro58Leu) SNV Likely benign 337970 rs369865672 GRCh37: 20:25062560-25062560
GRCh38: 20:25081924-25081924

Expression for Keratoconus

Search GEO for disease gene expression data for Keratoconus.

Pathways for Keratoconus

GO Terms for Keratoconus

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 VSX1 RPE65 KERA GUCY2D CRX AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 GUCY2D AIPL1
3 detection of light stimulus involved in visual perception GO:0050908 9.26 RPE65 CRB1
4 visual perception GO:0007601 9.17 VSX1 RPE65 KERA GUCY2D CRX CRB1
5 retina morphogenesis in camera-type eye GO:0060042 9.16 RPE65 CRB1

Sources for Keratoconus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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