MCID: KRT007
MIFTS: 50

Keratoconus

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus

MalaCards integrated aliases for Keratoconus:

Name: Keratoconus 39 12 77 54 26 38 56 6 45 15 41 74
Kc 54 26 17
Conical Cornea 12 26
Noninflammatory Corneal Thining 54
Bulging Cornea 26

Classifications:



External Ids:

Disease Ontology 12 DOID:10126
KEGG 38 H00789
ICD9CM 36 371.6 371.60
MeSH 45 D007640
NCIt 51 C26806
SNOMED-CT 69 65636009
ICD10 34 H18.6 H18.60
UMLS 74 C0022578

Summaries for Keratoconus

NIH Rare Diseases : 54 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.

MalaCards based summary : Keratoconus, also known as kc, is related to keratoconus 1 and leber congenital amaurosis 4. An important gene associated with Keratoconus is VSX1 (Visual System Homeobox 1). The drugs Ranibizumab and Flavin Mononucleotide have been mentioned in the context of this disorder. Affiliated tissues include Eye, eye and endothelial.

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.

Genetics Home Reference : 26 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.

Wikipedia : 77 Keratoconus (KC) is a disorder of the eye which 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 266)
# Related Disease Score Top Affiliating Genes
1 keratoconus 1 34.6 HKDC1 VSX1 ZNF469
2 leber congenital amaurosis 4 32.8 AIPL1 GUCY2D RPE65
3 leber congenital amaurosis 32.6 AIPL1 CRB1 GUCY2D RPE65
4 leber congenital amaurosis 12 32.1 GUCY2D RPE65
5 leber congenital amaurosis 9 32.1 AIPL1 CRB1 GUCY2D RPE65
6 corneal ectasia 31.3 KERA VSX1
7 astigmatism 30.9 ACP2 KRT3
8 corneal disease 30.3 KERA KRT3 TUBA3D VSX1 ZNF469
9 yemenite deaf-blind hypopigmentation syndrome 30.2 AIPL1 CRB1 GUCY2D RPE65
10 cone-rod dystrophy 2 30.2 AIPL1 GUCY2D RPE65
11 keratoconus 6 12.5
12 keratoconus 9 12.5
13 keratoconus posticus circumscriptus 12.4
14 keratoconus 5 12.4
15 keratoconus 8 12.3
16 keratoconus 7 12.3
17 keratoconus 2 12.2
18 keratoconus 3 12.2
19 keratoconus 4 12.2
20 mental retardation, keratoconus, febrile seizures, and sinoatrial block 12.2
21 keratoconus and congenital hip dysplasia 12.1
22 acute hydrops keratoconus 12.1
23 stable condition keratoconus 12.1
24 edict syndrome 11.7
25 brittle cornea syndrome 2 11.4
26 pellucid marginal degeneration 11.3
27 retinitis pigmentosa 11.3
28 kenny-caffey syndrome, type 1 11.3
29 leber congenital amaurosis 1 11.1
30 leber congenital amaurosis 2 11.1
31 brittle cornea syndrome 1 11.1
32 leber congenital amaurosis 6 11.1
33 leber congenital amaurosis 7 11.1
34 leber congenital amaurosis 8 11.1
35 leber congenital amaurosis 11 11.1
36 kenny-caffey syndrome, type 2 11.1
37 arterial tortuosity syndrome 11.0
38 gapo syndrome 11.0
39 leber congenital amaurosis 3 11.0
40 leber congenital amaurosis 5 11.0
41 retinitis pigmentosa 7 11.0
42 leber congenital amaurosis 10 11.0
43 leber congenital amaurosis 13 11.0
44 leber congenital amaurosis 14 11.0
45 leber congenital amaurosis 15 11.0
46 leber congenital amaurosis 16 11.0
47 leber congenital amaurosis 17 11.0
48 anterior segment dysgenesis 11.0
49 cataract 10.5
50 japanese encephalitis 10.4

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 151)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Flavin Mononucleotide Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 146-17-8 643976
3
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83-88-5 493570
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
7
Rhein Experimental Phase 4 478-43-3 10168
8 Angiogenesis Inhibitors Phase 4
9 Angiogenesis Modulating Agents Phase 4
10 Ophthalmic Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Vitamin B2 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable
14 Anti-Inflammatory Agents Phase 4,Phase 2
15 Antirheumatic Agents Phase 4
16 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Folate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Vitamin B9 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Nutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Psychotropic Drugs Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Neurotransmitter Agents Phase 4,Not Applicable
30 Antimanic Agents Phase 4
31 Excitatory Amino Acid Antagonists Phase 4
32 Ketorolac Tromethamine Phase 4
33 Anti-Anxiety Agents Phase 4
34 Analgesics Phase 4
35 Anticonvulsants Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Excitatory Amino Acids Phase 4
38 Tranquilizing Agents Phase 4
39
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
40
Dipivefrin Approved Phase 3,Phase 2,Not Applicable 52365-63-6 3105
41
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
42
tannic acid Approved Phase 3 1401-55-4
43 Dextrans Phase 3,Phase 2,Phase 1,Not Applicable
44 Plasma Substitutes Phase 3,Phase 2,Phase 1,Not Applicable
45 Blood Substitutes Phase 3,Phase 2,Phase 1,Not Applicable
46 Anticoagulants Phase 3,Phase 2,Phase 1,Not Applicable
47 Anesthetics Phase 3,Phase 2,Not Applicable
48 Anti-Bacterial Agents Phase 3,Phase 1,Not Applicable
49 Antibiotics, Antitubercular Phase 3,Phase 1,Not Applicable
50 Diuretics, Potassium Sparing Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 193)
# Name Status NCT ID Phase Drugs
1 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
2 Effect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus Completed NCT02119039 Phase 4
3 Pain Management in Corneal Collagen Crosslinking for Keratoconus Completed NCT02867176 Phase 4 Gabapentin;Ketorolac
4 Corneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin Completed NCT01485211 Phase 4 cross-linking with hypo-osmolar riboflavin
5 Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty Completed NCT01018797 Phase 4
6 Cross-Linking ACcéléré Iontophorèse Confocal kératocONE Recruiting NCT03429569 Phase 4 Cross linking
7 Epi-On Corneal Crosslinking for Keratoconus Enrolling by invitation NCT03245853 Phase 4 Riboflavin 5'-Phosphate
8 Non-inferiority Trial of Iontophoretic Corneal Collagen Crosslinking (CXL) Compared to Standard Corneal Collagen Crosslinking in Progressive Keratoconus. Unknown status NCT01868620 Phase 3
9 Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial Unknown status NCT01604135 Phase 3
10 Refractive Treatment of Early Keratoconus Unknown status NCT02613780 Phase 3
11 Safety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus Unknown status NCT00815256 Phase 3
12 Treatment of Keratoconus Using Collagen Cross-Linking Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
13 Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus Unknown status NCT02638376 Phase 3
14 Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus Unknown status NCT00371202 Phase 3
15 Evaluating Collagen Cross-Linking (CCL) Treatment in Norway Unknown status NCT00435799 Phase 2, Phase 3 Riboflavin/dextran eyedrops
16 Corneal Cross-Linking Comparing Variables Unknown status NCT02095730 Phase 3 Epithelium-On Riboflavin;Epithelium-Off Riboflavin
17 Corneal Sensitivity Cross-linking Keratoconus Completed NCT01743443 Phase 2, Phase 3
18 Riboflavin Mediated Corneal Crosslinking for Stabilizing Progression of Keratoconus Completed NCT00626717 Phase 2, Phase 3
19 Microwave Treatment and Corneal Collagen Crosslinking for Keratoconus Completed NCT01672814 Phase 3 riboflavin ophthalmic solution
20 Corneal Collagen Cross-linking for Progressive Keratoconus Completed NCT00647699 Phase 3 riboflavin ophthalmic solution
21 Corneal Collagen Cross-Linking for the Treatment of Progressive Keratoconus and Corneal Ectasia Completed NCT00567671 Phase 2, Phase 3
22 Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01643226 Phase 3 riboflavin solution;placebo solution
23 Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01344187 Phase 3 riboflavin solution;placebo solution
24 Deep Anterior Lamellar Keratoplasty (DALK) Completed NCT00887900 Phase 3
25 Comparison of Standard vs. Accelerated Corneal Crosslinking Recruiting NCT03922542 Phase 2, Phase 3
26 The Effects of Corneal Collagen Cross-linking Recruiting NCT01708538 Phase 3 CXL
27 Accelerated Corneal Cross-linking With Different Riboflavin Solutions Recruiting NCT03187912 Phase 3 Riboflavin
28 Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus Active, not recruiting NCT03442751 Phase 3 Paracel 1;Paracel Placebo;Paracel 2 R0185
29 Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia Active, not recruiting NCT01464268 Phase 3 Riboflavin;Riboflavin
30 Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia Active, not recruiting NCT03080077 Phase 3 Ricrolin+;Epi-Off
31 Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin Active, not recruiting NCT01152541 Phase 3 Riboflavin/Dextran;Hypotonic Riboflavin
32 Corneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia Active, not recruiting NCT01112072 Phase 3 Riboflavin
33 Collagen Cross-Linking for Keratoconus/Ectasia With and Without Intacs Enrolling by invitation NCT01081561 Phase 2, Phase 3 Riboflavin
34 Corneal Collagen Cross-Linking (CXL) Performed With "Epi-ON" Versus "Epi-OFF" in Eyes With Keratoconus and Other Corneal Ectatic Disorders Not yet recruiting NCT03858036 Phase 3 Ricrolin+
35 Safety Study of the VEGA UV-A System to Treat Keratoconus Terminated NCT01190306 Phase 3 Riboflavin
36 Safety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus Terminated NCT01972854 Phase 3 riboflavin solution;placebo solution
37 Safety and Effectiveness Study of the VEGA UV-A System for Cross-linking in Eyes With Keratoconus and Ectasia Terminated NCT01398852 Phase 3 Riboflavin
38 Safety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery Terminated NCT01459679 Phase 3 riboflavin ophthalmic solution
39 Corneal Cross Linking and Topography Guided Excimer Laser Treatment Terminated NCT01682993 Phase 3
40 Corneal Crosslinking in Keratoconus and Corneal Ectasia Withdrawn NCT00679666 Phase 2, Phase 3 Riboflavin;Placebo
41 Adapted Fluence Settings for Corneal Collagen Cross-linking in Mild to Moderate Progressive Keratoconus Unknown status NCT02507362 Phase 1, Phase 2 riboflavin 0.1% combined with dextran 20 %
42 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
43 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
44 UVA-Riboflavin Crosslinking Treatment of Corneal Ectasia Unknown status NCT01325298 Phase 2 Riboflavin;Riboflavin
45 Clinical and Structural Outcome of Conventional Versus Accelerated Corneal Collagen Cross-linking (CXL). Unknown status NCT02883478 Phase 1, Phase 2 riboflavin with hydroxypropyl methylcellulose
46 Transepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus Completed NCT01181219 Phase 2
47 Corneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia Completed NCT01143389 Phase 2 Riboflavin
48 Comparison of Partial Removal and Total Removal of the Corneal Epithelium on Keratoconus Completed NCT01809977 Phase 2
49 Lamellar Transplant With Lyophilized Corneas Completed NCT00409955 Phase 2
50 Investigation of Different Scanning Protocols for 3 Dimensional High-resolution Imaging of the Human Cornea With Optical Coherence Tomography (OCT) - A Pilot Study Recruiting NCT01843101 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:

42
Eye, Endothelial, Neutrophil, Testes, Skin, Lung, T Cells
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 3396)
# Title Authors Year
1
Pediatric keratoconus misdiagnosed as meridional amblyopia. ( 30900595 )
2019
2
Visual acuity in patients with keratoconus: a comparison with matched regular myopic astigmatism. ( 30535968 )
2019
3
Three-year follow-up of intrastromal corneal ring segment implantation in central keratoconus with regular astigmatism: 'Bow-tie' shape. ( 30845839 )
2019
4
The Role of Ocular Response Analyzer in Differentiation of Forme Fruste Keratoconus From Corneal Astigmatism. ( 30265255 )
2019
5
Potentiality of microemulsion systems in treatment of ophthalmic disorders: Keratoconus and dry eye syndrome - In vivo study. ( 30300828 )
2019
6
Incidence and prevalence of keratoconus in Denmark - an update. ( 30964230 )
2019
7
Configuration of recipient corneal cut after mechanical trephination in keratoconus. ( 30968329 )
2019
8
Long-term Results of Mini Asymmetric Radial Keratotomy and Corneal Cross-linking for the Treatment of Keratoconus. ( 30977329 )
2019
9
10-Year Results of Standard Cross-Linking in Patients with Progressive Keratoconus in Romania. ( 30984419 )
2019
10
Biomechanical Analysis of Subclinical Keratoconus With Normal Topographic, Topometric, and Tomographic Findings. ( 30984982 )
2019
11
Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci. ( 30994860 )
2019
12
Successful Big Bubble-Assisted Deep Anterior Lamellar Keratoplasty in a Patient with Intracorneal Ring Segments and Previous Corneal Collagen Cross-Linking for Keratoconus. ( 30999334 )
2019
13
Two-year outcomes of a randomized controlled trial of transepithelial corneal crosslinking with iontophoresis for keratoconus. ( 31003798 )
2019
14
Serum Vitamin D Levels in Patients with Keratoconus. ( 31009587 )
2019
15
Corneal Collagen Cross-Linking in the Stabilization of Keratoconus. ( 31014449 )
2019
16
Visual Performance in Eyes Undergoing Femtosecond Laser-Assisted Keratoplasty for Advanced Keratoconus. ( 31015524 )
2019
17
Comparison of clinical outcomes of deep anterior lamellar keratoplasty and excimer laser assisted anterior lamellar keratoplasty in keratoconus. ( 31024810 )
2019
18
Long-Term Results of Accelerated Corneal Cross-Linking in Adolescent Patients With Keratoconus. ( 31033692 )
2019
19
Trends in Research Related to Keratoconus From 2009 to 2018: A Bibliometric and Knowledge Mapping Analysis. ( 31033693 )
2019
20
Computer aided diagnosis for suspect keratoconus detection. ( 31035069 )
2019
21
Management of progressive keratoconus with partial topography-guided PRK combined with refractive, customized CXL - a novel technique: the enhanced Athens protocol. ( 31040638 )
2019
22
Role of corneal epithelial thickness mapping in the evaluation of keratoconus. ( 31060894 )
2019
23
Whether Keratectasia Area Shown in Corneal Topography Is Appropriate for Evaluating the Effect of Corneal Cross-Linking for Keratoconus: A 12-Month Follow-Up Study. ( 31073520 )
2019
24
Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. ( 31077021 )
2019
25
Intrastromal corneal ring segments for treating keratoconus. ( 31087649 )
2019
26
Corneal deformation amplitude analysis for keratoconus detection through compensation for intraocular pressure and integration with horizontal thickness profile. ( 31096090 )
2019
27
Corneal cross-linking for keratoconus caused by compulsive eye rubbing in patients with Tourette syndrome: Three case reports. ( 31096492 )
2019
28
Spatially-resolved Brillouin spectroscopy reveals biomechanical abnormalities in mild to advanced keratoconus in vivo. ( 31097778 )
2019
29
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. ( 31107761 )
2019
30
Correlation Between Corneal Topographic, Densitometry, and Biomechanical Parameters in Keratoconus Eyes. ( 31110913 )
2019
31
Analysis of the Outcomes of Combined Cross-Linking with Intracorneal Ring Segment Implantation for the Treatment of Pediatric Keratoconus. ( 30362837 )
2019
32
Effect of accelerated corneal crosslinking on ocular response analyzer waveform-derived parameters in progressive keratoconus. ( 30403263 )
2019
33
Interplay between hereditary and environmental factors to establish an in vitro disease model of keratoconus. ( 30408528 )
2019
34
The tick sign - a new and simple test to diagnose keratoconus at the slit lamp. ( 30411518 )
2019
35
Late-onset progression of keratoconus after therapy with selective tissue estrogenic activity regulator. ( 30448005 )
2019
36
Standard cross-linking versus photorefractive keratectomy combined with accelerated cross-linking for keratoconus management: a comparative study. ( 30499232 )
2019
37
Automated Detection of the Stromal Demarcation Line Using Optical Coherence Tomography in Keratoconus Eyes After Corneal Cross-linking. ( 30529566 )
2019
38
Keratoconus Corneal Posterior Surface Characterization According to the Degree of Visual Limitation. ( 30865046 )
2019
39
Effect of the retention ring-assisted continuous application of riboflavin in pulsed-light accelerated corneal collagen cross-linking on the progression of keratoconus. ( 30866862 )
2019
40
Transepithelial accelerated versus conventional corneal collagen crosslinking in patients with keratoconus: a comparative study. ( 30880905 )
2019
41
Letter to the Editor re: "Corneal Collagen Cross-linking with Riboflavin and Ultraviolet A Light for Pediatric Keratoconus: Ten-Year Results". ( 30882540 )
2019
42
Corneal elevation changes after forced eyelid closure in healthy participants and in patients with keratoconus. ( 30887593 )
2019
43
Corneal Optical Performance After Corneal Collagen Cross-Linking In Keratoconus Patients. ( 30892952 )
2019
44
Epithelium-off corneal cross-linking in progressive keratoconus: 6- year outcomes. ( 30904286 )
2019
45
Late onset corneal haze after corneal cross-linking for progressive keratoconus. ( 30906900 )
2019
46
Re: Hwang et al.: Distinguishing highly asymmetric keratoconus eyes using combined Scheimpflug and spectral-domain OCT analysis (Ophthalmology. 2018;125:1862-1871). ( 30910043 )
2019
47
Matrix metalloproteinases in keratoconus - Too much of a good thing? ( 30910610 )
2019
48
Anatomical and Visual Effects of the MyoRing Implantation Measured by the ABCD Keratoconus Grading System. ( 30913096 )
2019
49
Contributions of the superoxide dismutase 1 and zinc finger protein 469 (ZNF469) genes to keratoconus. ( 30916512 )
2019
50
A New Scoring System for Progressive Keratoconus. ( 30920589 )
2019

Variations for Keratoconus

ClinVar genetic disease variations for Keratoconus:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs387907358 GRCh37 Chromosome 12, 49375373: 49375373
2 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs387907358 GRCh38 Chromosome 12, 48981590: 48981590
3 VSX1 NM_014588.5(VSX1): c.173C> T (p.Pro58Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369865672 GRCh38 Chromosome 20, 25081924: 25081924
4 VSX1 NM_014588.5(VSX1): c.173C> T (p.Pro58Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369865672 GRCh37 Chromosome 20, 25062560: 25062560
5 VANGL1 NM_001172411.1(VANGL1): c.41C> T (p.Ser14Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 116194075: 116194075
6 VANGL1 NM_001172411.1(VANGL1): c.41C> T (p.Ser14Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 115651454: 115651454
7 PIK3CG NM_001282426.1(PIK3CG): c.709delC (p.Asp238Thrfs) deletion Uncertain significance GRCh38 Chromosome 7, 106868270: 106868270
8 PIK3CG NM_001282426.1(PIK3CG): c.709delC (p.Asp238Thrfs) deletion Uncertain significance GRCh37 Chromosome 7, 106508715: 106508715
9 PPP3CC NM_001243975.1(PPP3CC): c.1199T> C (p.Met400Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 22389795: 22389795
10 PPP3CC NM_001243975.1(PPP3CC): c.1199T> C (p.Met400Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 22532282: 22532282
11 DAB2IP NM_138709.2(DAB2IP): c.2387C> T (p.Pro796Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 121773287: 121773287
12 DAB2IP NM_138709.2(DAB2IP): c.2387C> T (p.Pro796Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 124535566: 124535566
13 LRP6 NM_002336.2(LRP6): c.4822C> T (p.Pro1608Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 12274080: 12274080
14 LRP6 NM_002336.2(LRP6): c.4822C> T (p.Pro1608Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 12121146: 12121146
15 PAK6 NM_001276717.1(PAK6): c.1855C> A (p.Pro619Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40566454: 40566454
16 PAK6 NM_001276717.1(PAK6): c.1855C> A (p.Pro619Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40274253: 40274253
17 NFATC3 NM_004555.3(NFATC3): c.1922G> A (p.Arg641Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 68215384: 68215384
18 NFATC3 NM_004555.3(NFATC3): c.1922G> A (p.Arg641Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 68181481: 68181481
19 NF1 NM_000267.3(NF1): c.5194G> C (p.Val1732Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 29653259: 29653259
20 NF1 NM_000267.3(NF1): c.5194G> C (p.Val1732Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 31326241: 31326241
21 FZD2 NM_001466.3(FZD2): c.1238G> A (p.Arg413Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44558926: 44558926
22 FZD2 NM_001466.3(FZD2): c.1238G> A (p.Arg413Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42636294: 42636294
23 COL5A3 NM_015719.3(COL5A3): c.4204A> C (p.Lys1402Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 10079353: 10079353
24 COL5A3 NM_015719.3(COL5A3): c.4204A> C (p.Lys1402Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 9968677: 9968677
25 PTK6 NM_005975.3(PTK6): c.1066C> A (p.Pro356Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 63530180: 63530180
26 PTK6 NM_005975.3(PTK6): c.1066C> A (p.Pro356Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 62161533: 62161533

Expression for Keratoconus

Search GEO for disease gene expression data for Keratoconus.

Pathways for Keratoconus

GO Terms for Keratoconus

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 8.62 AIPL1 CRB1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.35 AIPL1 GUCY2D KERA RPE65 VSX1
2 retina homeostasis GO:0001895 9.26 AIPL1 RPE65
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 AIPL1 GUCY2D
4 visual perception GO:0007601 9.02 AIPL1 GUCY2D KERA RPE65 VSX1

Sources for Keratoconus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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