KC
MCID: KRT007
MIFTS: 49

Keratoconus (KC)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratoconus

MalaCards integrated aliases for Keratoconus:

Name: Keratoconus 38 12 76 53 25 37 55 6 44 15 73
Conical Cornea 12 25
Kc 53 25
Noninflammatory Corneal Thining 53
Bulging Cornea 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10126
ICD10 33 H18.6 H18.60
ICD9CM 35 371.6 371.60
MeSH 44 D007640
NCIt 50 C26806
SNOMED-CT 68 65636009
KEGG 37 H00789
UMLS 73 C0022578

Summaries for Keratoconus

NIH Rare Diseases : 53 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 conical cornea, is related to keratoconus 1 and leber congenital amaurosis 4. An important gene associated with Keratoconus is KTCN4 (Keratoconus 4). 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 : 25 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 : 76 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 223)
# Related Disease Score Top Affiliating Genes
1 keratoconus 1 34.3 HKDC1 VSX1 ZNF469
2 leber congenital amaurosis 4 32.5 AIPL1 GUCY2D RPE65
3 leber congenital amaurosis 32.3 AIPL1 CRB1 GUCY2D RPE65
4 leber congenital amaurosis 12 31.8 GUCY2D RPE65
5 leber congenital amaurosis 9 31.8 AIPL1 CRB1 GUCY2D RPE65
6 corneal ectasia 31.0 KERA VSX1
7 astigmatism 30.8 ACP2 KRT3
8 corneal disease 30.1 KERA KRT3 TUBA3D VSX1 ZNF469
9 cone-rod dystrophy 2 29.9 AIPL1 GUCY2D RPE65
10 keratoconus 6 12.4
11 keratoconus posticus circumscriptus 12.4
12 keratoconus 5 12.3
13 keratoconus 9 12.3
14 keratoconus 8 12.3
15 keratoconus 7 12.3
16 keratoconus 2 12.2
17 keratoconus 3 12.2
18 keratoconus 4 12.2
19 mental retardation, keratoconus, febrile seizures, and sinoatrial block 12.1
20 acute hydrops keratoconus 12.0
21 stable condition keratoconus 12.0
22 keratoconus and congenital hip dysplasia 12.0
23 brittle cornea syndrome 2 11.5
24 edict syndrome 11.3
25 pellucid marginal degeneration 11.3
26 retinitis pigmentosa 11.3
27 kenny-caffey syndrome, type 1 11.2
28 leber congenital amaurosis 1 11.1
29 leber congenital amaurosis 2 11.1
30 brittle cornea syndrome 1 11.1
31 leber congenital amaurosis 6 11.1
32 leber congenital amaurosis 7 11.1
33 leber congenital amaurosis 8 11.1
34 leber congenital amaurosis 11 11.1
35 kenny-caffey syndrome, type 2 11.0
36 arterial tortuosity syndrome 10.9
37 gapo syndrome 10.9
38 leber congenital amaurosis 3 10.9
39 leber congenital amaurosis 5 10.9
40 retinitis pigmentosa 7 10.9
41 leber congenital amaurosis 10 10.9
42 leber congenital amaurosis 13 10.9
43 leber congenital amaurosis 14 10.9
44 leber congenital amaurosis 15 10.9
45 leber congenital amaurosis 16 10.9
46 leber congenital amaurosis 17 10.9
47 anterior segment dysgenesis 10.9
48 japanese encephalitis 10.5
49 cataract 10.4
50 corneal dystrophy 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 147)
# 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 66635-83-4, 74103-06-3 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 Immunologic Factors Phase 4
9 Angiogenesis Modulating Agents Phase 4
10 Angiogenesis Inhibitors Phase 4
11 Ophthalmic Solutions 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 Antirheumatic Agents Phase 4
15 Anti-Inflammatory Agents Phase 4,Phase 2
16 Vitamin B2 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Vitamin B9 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Folate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Ketorolac Tromethamine Phase 4
27 Psychotropic Drugs Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Analgesics Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Anticonvulsants Phase 4
33 Anti-Anxiety Agents Phase 4
34 Antiparkinson Agents Phase 4
35 calcium channel blockers Phase 4
36 Excitatory Amino Acid Antagonists Phase 4
37 Tranquilizing Agents Phase 4
38 Calcium, Dietary Phase 4
39 Excitatory Amino Acids Phase 4
40 Antimanic Agents Phase 4
41 Neurotransmitter Agents Phase 4,Not Applicable
42
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
43
Dipivefrin Approved Phase 3,Not Applicable 52365-63-6 3105
44
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
45 tannic acid Approved Phase 3
46 Anesthetics Phase 3,Phase 2,Not Applicable
47 Anti-Bacterial Agents Phase 3,Phase 1,Not Applicable
48 Antibiotics, Antitubercular Phase 3,Phase 1,Not Applicable
49 Diuretics, Potassium Sparing Phase 2, Phase 3
50 Anesthetics, Local Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 186)
# 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 Refractive Treatment of Early Keratoconus Unknown status NCT02613780 Phase 3
10 Safety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus Unknown status NCT00815256 Phase 3
11 Treatment of Keratoconus Using Collagen Cross-Linking Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
12 Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus Unknown status NCT02638376 Phase 3
13 Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus Unknown status NCT00371202 Phase 3
14 Evaluating Collagen Cross-Linking (CCL) Treatment in Norway Unknown status NCT00435799 Phase 2, Phase 3 Riboflavin/dextran eyedrops
15 Corneal Cross-Linking Comparing Variables Unknown status NCT02095730 Phase 3 Epithelium-On Riboflavin;Epithelium-Off Riboflavin
16 Corneal Sensitivity Cross-linking Keratoconus Completed NCT01743443 Phase 2, Phase 3
17 Riboflavin Mediated Corneal Crosslinking for Stabilizing Progression of Keratoconus Completed NCT00626717 Phase 2, Phase 3
18 Microwave Treatment and Corneal Collagen Crosslinking for Keratoconus Completed NCT01672814 Phase 3 riboflavin ophthalmic solution
19 Corneal Collagen Cross-linking for Progressive Keratoconus Completed NCT00647699 Phase 3 riboflavin ophthalmic solution
20 Corneal Collagen Cross-Linking for the Treatment of Progressive Keratoconus and Corneal Ectasia Completed NCT00567671 Phase 2, Phase 3
21 Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01643226 Phase 3 riboflavin solution;placebo solution
22 Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01344187 Phase 3 riboflavin solution;placebo solution
23 Deep Anterior Lamellar Keratoplasty (DALK) Completed NCT00887900 Phase 3
24 Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial Recruiting NCT01604135 Phase 3
25 Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus Recruiting NCT03442751 Phase 3 Paracel 1;Paracel Placebo;Paracel 2 R0185
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 Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia Active, not recruiting NCT01464268 Phase 3 Riboflavin;Riboflavin
29 Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia Active, not recruiting NCT03080077 Phase 3 Ricrolin+;Epi-Off
30 Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin Active, not recruiting NCT01152541 Phase 3 Riboflavin/Dextran;Hypotonic Riboflavin
31 Corneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia Active, not recruiting NCT01112072 Phase 3 Riboflavin
32 Collagen Cross-Linking for Keratoconus/Ectasia With and Without Intacs Enrolling by invitation NCT01081561 Phase 2, Phase 3 Riboflavin
33 Safety Study of the VEGA UV-A System to Treat Keratoconus Terminated NCT01190306 Phase 3 Riboflavin
34 Safety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus Terminated NCT01972854 Phase 3 riboflavin solution;placebo solution
35 Safety and Effectiveness Study of the VEGA UV-A System for Cross-linking in Eyes With Keratoconus and Ectasia Terminated NCT01398852 Phase 3 Riboflavin
36 Safety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery Terminated NCT01459679 Phase 3 riboflavin ophthalmic solution
37 Corneal Cross Linking and Topography Guided Excimer Laser Treatment Terminated NCT01682993 Phase 3
38 Corneal Crosslinking in Keratoconus and Corneal Ectasia Withdrawn NCT00679666 Phase 2, Phase 3 Riboflavin;Placebo
39 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 %
40 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
41 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
42 UVA-Riboflavin Crosslinking Treatment of Corneal Ectasia Unknown status NCT01325298 Phase 2 Riboflavin;Riboflavin
43 Clinical and Structural Outcome of Conventional Versus Accelerated Corneal Collagen Cross-linking (CXL). Unknown status NCT02883478 Phase 1, Phase 2 riboflavin with hydroxypropyl methylcellulose
44 Transepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus Completed NCT01181219 Phase 2
45 Corneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia Completed NCT01143389 Phase 2 Riboflavin
46 Comparison of Partial Removal and Total Removal of the Corneal Epithelium on Keratoconus Completed NCT01809977 Phase 2
47 Lamellar Transplant With Lyophilized Corneas Completed NCT00409955 Phase 2
48 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
49 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
50 COLLAGEN CROSS-LINKING WITH ULTRAVIOLET-A IN ASYMMETRIC CORNEAS Recruiting NCT03029104 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:

41
Eye, Endothelial, Testes, Thyroid, Neutrophil, Retina, Bone
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 1703)
# Title Authors Year
1
Assessment of the macula and choroid in pediatric keratoconus patients. ( 29942181 )
2018
2
Femtosecond-assisted intracorneal ring segment complications in keratoconus: from novelty to expertise. ( 29872254 )
2018
3
Palmoplantar Keratoderma with Keratoconus. ( 29899652 )
2018
4
Importance of Posterior Corneal Astigmatism in Eyes with Keratoconus. ( 29403581 )
2018
5
Comparison of Holladay equivalent keratometry readings and anterior corneal surface keratometry measurements in keratoconus. ( 29934929 )
2018
6
Comparison of Anterior, Posterior, and Total Corneal Astigmatism Measured Using a Single Scheimpflug Camera in Healthy and Keratoconus Eyes. ( 29770640 )
2018
7
Correction to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful? ( 29400575 )
2018
8
Vision-Related Quality of Life in Iranian Patients With Keratoconus: National Eye Institute Vision Function Questionnaire-25. ( 29864035 )
2018
9
Case report: acute hydrops and spontaneous corneal perforation in a patient with keratoconus treated with colchicine for familial Mediterranean fever. ( 29713855 )
2018
10
Evaluation of Goldmann applanation tonometry, rebound tonometry and dynamic contour tonometry in keratoconus. ( 29396037 )
2018
11
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent. ( 29924831 )
2018
12
Keratoconus-like tomographic changes in a case of recurrent interstitial keratitis. ( 29516199 )
2018
13
Use of Donors Predisposed by Corneal Collagen Cross-linking in Penetrating Keratoplasty for Treating Patients With Keratoconus. ( 29433743 )
2018
14
Prevalence and topographical characteristics of keratoconus in patients with refractive errors in the Egyptian delta. ( 29938312 )
2018
15
Accelerated versus standard corneal collagen cross-linking in pediatric keratoconus patients: 24 months follow-up results. ( 29910023 )
2018
16
Changes in the ABCD Keratoconus Grade After Intracorneal Ring Segment Implantation. ( 29863546 )
2018
17
Simultaneous intratunnel cross-linking with intrastromal corneal ring segment implantation versus simultaneous epithelium-off cross-linking with intrastromal corneal ring segment implantation for keratoconus management. ( 29398901 )
2018
18
Intrasubject Repeatability and Interdevice Agreement of Anterior Chamber Depth Measurements by Orbscan and Pentacam in Different Grades of Keratoconus. ( 29944509 )
2018
19
Evaluation of galectin-1 and galectin-3 as prospective biomarkers in keratoconus. ( 29439091 )
2018
20
Combined wavefront-guided transepithelial photorefractive keratectomy and corneal crosslinking for visual rehabilitation in moderate keratoconus. ( 29891154 )
2018
21
Evaluation of the Effectiveness of Cross-Linking Combined With Photorefractive Keratectomy for Treatment of Keratoconus. ( 29952798 )
2018
22
Lamina Cribrosa Thickness in Patients With Keratoconus. ( 29419554 )
2018
23
Macular Choroidal Thickening in Keratoconus Patients: Swept-Source Optical Coherence Tomography Study. ( 29888113 )
2018
24
Effects of Preoperative Topometric Indices on Visual Gain After Intracorneal Ring Segment Implantation For Keratoconus. ( 29944503 )
2018
25
Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population. ( 29428799 )
2018
26
Visual quality with corneo-scleral contact lenses for keratoconus management. ( 29398334 )
2018
27
Additional Intrastromal Corneal Ring Segments in Keratoconus. ( 29384806 )
2018
28
An unusual hydrops in keratoconus. ( 29380789 )
2018
29
5-year follow-up of combined non-topography guided photorefractive keratectomy and corneal collagen cross linking for keratoconus. ( 29375990 )
2018
30
Characteristics of Posterior Corneal Astigmatism in Different Stages of Keratoconus. ( 29403582 )
2018
31
Keratoconus treatment using femtosecond-assisted intrastromal corneal graft (FAISCG) surgery: a case series. ( 29416380 )
2018
32
Corneal Biomechanics in Unilateral Keratoconus and Fellow Eyes with a Scheimpflug-based Tonometer. ( 29957740 )
2018
33
Association Between Advanced Keratoconus and Serum Levels of Zinc, Calcium, Magnesium, Iron, Copper, and Selenium. ( 29894321 )
2018
34
An Early Finding of Keratoconus: Increase in Corneal Densitometry. ( 29384807 )
2018
35
Re: Lamina Cribrosa Thickness in Patients With Keratoconus. ( 29878960 )
2018
36
Refractive Stability After Deep Anterior Lamellar Keratoplasty for Keratoconus. ( 29979231 )
2018
37
Prevalence of keratoconus among patients seeking laser vision correction in Taif area of Saudi Arabia. ( 29942179 )
2018
38
Collagen fiber changes related to keratoconus with secondary corneal amyloidosis. ( 30214321 )
2018
39
The Role of Ocular Response Analyzer in Differentiation of Forme Fruste Keratoconus From Corneal Astigmatism. ( 30265255 )
2018
40
Visual acuity in patients with keratoconus: a comparison with matched regular myopic astigmatism. ( 30535968 )
2018
41
Implantation of toric intraocular lenses in patients with cataract and keratoconus: a case series. ( 30214320 )
2018
42
Clinical Outcomes of Sequential Intrastromal Corneal Ring Segments and an Extended Range of Vision Intraocular Lens Implantation in Patients with Keratoconus and Cataract. ( 29850216 )
2018
43
Predictability of Intraocular Lens Power Calculation for Cataract with Keratoconus: A Multicenter Study. ( 29358627 )
2018
44
Cataract surgery in eyes with keratoconus: a review of the current literature. ( 28961565 )
2018
45
Central serous chorioretinopathy probably associated with isotretinoin in a keratoconus patient. ( 30119816 )
2018
46
Potentiality of microemulsion systems in treatment of ophthalmic disorders: Keratoconus and dry eye syndrome - In vivo study. ( 30300828 )
2018
47
Classic homocystinuria and keratoconus: a case report. ( 29995127 )
2018
48
Bilateral Keratoconus Induced by Secondary Hypothyroidism After Radioactive Iodine Therapy. ( 29738593 )
2018
49
Genetic Polymorphisms of Catalase and Glutathione Peroxidase-1 in Keratoconus. ( 30524988 )
2018
50
Graft rejection-like reactions in the early postoperative period after deep anterior lamellar keratoplasty for keratoconus: a retrospective study. ( 30532516 )
2018

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 rs765361316 GRCh38 Chromosome 9, 121773287: 121773287
12 DAB2IP NM_138709.2(DAB2IP): c.2387C> T (p.Pro796Leu) single nucleotide variant Uncertain significance rs765361316 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 rs772345934 GRCh37 Chromosome 16, 68215384: 68215384
18 NFATC3 NM_004555.3(NFATC3): c.1922G> A (p.Arg641Gln) single nucleotide variant Uncertain significance rs772345934 GRCh38 Chromosome 16, 68181481: 68181481
19 NF1 NM_000267.3(NF1): c.5194G> C (p.Val1732Leu) single nucleotide variant Uncertain significance rs148540952 GRCh37 Chromosome 17, 29653259: 29653259
20 NF1 NM_000267.3(NF1): c.5194G> C (p.Val1732Leu) single nucleotide variant Uncertain significance rs148540952 GRCh38 Chromosome 17, 31326241: 31326241
21 FZD2 NM_001466.3(FZD2): c.1238G> A (p.Arg413Gln) single nucleotide variant Uncertain significance rs758351214 GRCh38 Chromosome 17, 44558926: 44558926
22 FZD2 NM_001466.3(FZD2): c.1238G> A (p.Arg413Gln) single nucleotide variant Uncertain significance rs758351214 GRCh37 Chromosome 17, 42636294: 42636294
23 COL5A3 NM_015719.3(COL5A3): c.4204A> C (p.Lys1402Gln) single nucleotide variant Uncertain significance rs777027146 GRCh37 Chromosome 19, 10079353: 10079353
24 COL5A3 NM_015719.3(COL5A3): c.4204A> C (p.Lys1402Gln) single nucleotide variant Uncertain significance rs777027146 GRCh38 Chromosome 19, 9968677: 9968677
25 PTK6 NM_005975.3(PTK6): c.1066C> A (p.Pro356Thr) single nucleotide variant Uncertain significance rs777792665 GRCh38 Chromosome 20, 63530180: 63530180
26 PTK6 NM_005975.3(PTK6): c.1066C> A (p.Pro356Thr) single nucleotide variant Uncertain significance rs777792665 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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