MCID: CTR002
MIFTS: 59

Cataract

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract

Summaries for Cataract

KEGG : 36 Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount of high molecular weight protein aggregates. Cataracts can be classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent), autosomal recessive, or X-linked traits.

MalaCards based summary : Cataract, also known as cataracts, is related to cataract 1, multiple types and cataract 6, multiple types. An important gene associated with Cataract is LIM2 (Lens Intrinsic Membrane Protein 2), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs Hyaluronic acid and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include Eye, endothelial and retina, and related phenotype is vision/eye.

Disease Ontology : 12 A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.

MedlinePlus : 42 A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are Blurry vision Colors that seem faded Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. Not being able to see well at night Double vision Frequent prescription changes in your eye wear Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute

PubMed Health : 62 About cataracts: A cataract is an eye condition in which the lens of the eye becomes cloudy. This causes vision to worsen, making it especially difficult to see fine details clearly. Some people’s vision is only slightly affected, whereas others might lose their eyesight very quickly. How it progresses will depend on things like the exact type of cataract. The word “cataract” comes from the Greek word for “waterfall” because in the past it was believed that the blurring was caused by a fluid in the eye. Cataracts mostly affect people over 50, and the risk increases with age: About 20 out of 100 people between the ages of 65 and 74 have a cataract. And more than 50 out of 100 people over the age of 74 are affected. Cataracts are the main cause of blindness in developing countries. The number of people who go blind from cataracts is considerably lower in industrialized countries due to the availability of effective surgery. Cataract surgery involves removing the cloudy eye lens and replacing it with an artificial lens. It is one of the most common surgical procedures performed in Germany, where about 800,000 people have cataract surgery every year.

Wikipedia : 73 A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often... more...

Related Diseases for Cataract

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

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

(show top 50) (show all 1691)
# Related Disease Score Top Affiliating Genes
1 cataract 1, multiple types 33.5 GJA8 GJA3 CRYAA
2 cataract 6, multiple types 33.4 CRYBB3 CRYBA1 CRYAA
3 cataract 9, multiple types 33.4 GJA8 CRYAA
4 cataract microcornea syndrome 33.3 GJA8 CRYGD CRYAA
5 cataract 11, multiple types 33.2 CRYBA1 CRYAA
6 cataract 24 33.2 CTAA2 CRYBB3 CRYAA
7 nance-horan syndrome 33.2 GJA8 CRYGD CRYBB3 CRYAA
8 cataract 14, multiple types 33.2 GJA8 GJA3
9 cataract 16, multiple types 33.1 CRYBA1 CRYAA
10 cataract 30, multiple types 33.1 GJA8 GJA3 CRYGD
11 cataract 32, multiple types 33.1 CRYBA1 CRYAA
12 senile cataract 33.1 WRN CRYGS CRYAA
13 cataract 44 33.1 LIM2 GJA8 CRYAA
14 cataract 31, multiple types 33.1 CRYBA1 CRYAA
15 posterior polar cataract 33.1 GJA3 CRYGD CRYBA1 CRYAA
16 immature cataract 33.1 GJA8 GJA3 CRYAA
17 mature cataract 33.1 GJA8 CRYGS CRYGD CRYAA
18 cataract 28 33.0 CTRCT28 CRYAA
19 cerulean cataract 32.9 CTRCT37 CRYGD
20 cataract 29 32.9 CTRCT29 CRYGD
21 morgagni cataract 32.8 CRYGS CRYAA
22 galactosemia ii 32.8 LIM2 CRYGS CRYAA
23 nuclear senile cataract 32.8 CRYGS CRYGD
24 amblyopia 32.7 GJA8 GJA3 CRYGS CRYGD CRYAA
25 diabetic cataract 32.7 CRYGS CRYAA
26 early-onset non-syndromic cataract 32.6 LIM2 GJA3 CRYGS CRYBB3 CRYBA1
27 early-onset nuclear cataract 32.5 GJA8 GJA3 CRYGD CRYBB3 CRYBA1 CRYAA
28 early-onset sutural cataract 32.4 GJA8 CRYGS CRYBA1
29 macular retinal edema 32.2 RHO CRYAA
30 early-onset lamellar cataract 32.2 CRYGS CRYGD CRYBA1 CRYAA
31 early-onset posterior polar cataract 32.2 GJA3 CRYBA1
32 presbyopia 31.7 LIM2 CRYGS CRYGD CRYAA
33 leber congenital amaurosis 2 31.7 RHO CRYAA
34 lens disease 31.6 WRN SIL1 RHO GJA8 GJA3 CRYGS
35 leukocoria 30.9 CRYBA1 CRYAA
36 scleral staphyloma 30.6 CRYBB3 CRYBA1 CRYAA
37 sclerocornea 30.5 GJA8 CRYAA
38 hereditary retinal dystrophy 30.3 RHO CRYAA
39 disuse amblyopia 30.2 CRYGS CRYAA
40 vitreous disease 30.2 RHO CRYAA
41 cataract 4, multiple types 11.6
42 hyperferritinemia with or without cataract 11.6
43 cataract 21, multiple types 11.6
44 cataract 3, multiple types 11.6
45 optic atrophy 3, autosomal dominant 11.6
46 leukodystrophy, hypomyelinating, 5 11.6
47 cataract 2, multiple types 11.6
48 cataract 40 11.5
49 cataract 47 11.5
50 cataract 22, multiple types 11.5

Graphical network of the top 20 diseases related to Cataract:



Diseases related to Cataract

Symptoms & Phenotypes for Cataract

MGI Mouse Phenotypes related to Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 CRYBA1 CRYGD CRYGS GJA3 GJA8 IARS2

Drugs & Therapeutics for Cataract

PubMed Health treatment related to Cataract: 62

Some people can compensate for the vision loss, temporarily or even in the longer term, by wearing glasses or contact lenses . There are no medications for the treatment of cataracts . The only effective treatment is surgery . Cataract surgery involves removing the cloudy lens and replacing it with a new, artificial lens. The lens capsule – an elastic membrane surrounding the lens of the eye – is left in the eye during surgery. Only the inner core and the outer cortex of the lens are broken up into small pieces using ultrasound. The pieces are then sucked out of the eye through a small cut. This procedure, called phacoemulsification , is the standard technique in Germany and some other countries. Once the lens has been removed, an artificial lens is implanted into the lens capsule. Whether and when surgery is an appropriate treatment option is very much a personal decision. The extent to which vision loss is affecting someone’s life will play a very important role. Another factor to consider is the presence of other (eye ) conditions, which could affect the outcome of cataract surgery .

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

(show top 50) (show all 313)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
9
Travoprost Approved Phase 4 157283-68-6 5282226
10
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
11
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
12
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
13
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
14
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
16
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
17
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
18
Bromfenac Approved Phase 4 91714-94-2 60726
19
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
20
Gatifloxacin Approved, Investigational Phase 4 112811-59-3 5379
21
Besifloxacin Approved Phase 4 141388-76-3
22
Dinoprostone Approved Phase 4 363-24-6 5280360
23
Vancomycin Approved Phase 4 1404-90-6 14969 441141
24 Orange Approved Phase 4
25
Ofloxacin Approved Phase 4 82419-36-1 4583
26
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
27
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
28
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
29
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
30
Dalteparin Approved Phase 4 9005-49-6
31
Enoxaparin Approved Phase 4 9005-49-6 772
32
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
33
Azithromycin Approved Phase 4 83905-01-5 447043 55185
34
Homatropine Approved Phase 4 87-00-3
35
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
36
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
37
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
38
Bevacizumab Approved, Investigational Phase 4 216974-75-3
39
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
40
Ranibizumab Approved Phase 4 347396-82-1 459903
41
Lifitegrast Approved Phase 4 1025967-78-5
42
Catechin Approved, Withdrawn Phase 4 154-23-4 9064
43
tannic acid Approved Phase 4 1401-55-4
44
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
45
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
46
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
47
Difluprednate Approved Phase 4 23674-86-4 443936
48
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
49
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
50
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529

Interventional clinical trials:

(show top 50) (show all 1223)
# Name Status NCT ID Phase Drugs
1 Effect of Anti-inflammatory Topical Prednisolone Acetate 1%, Nepafenac of 0.1% and Ketorolac Tromethamine 0.4% in Intra-operative Mydriasis in Facetectomies Unknown status NCT00865540 Phase 4 prednisolone acetate 1%;ketorolac tromethamine 0.4%;nepafenac 0.1%;methylcellulose 0.5%
2 A Prospective Evaluation of Mild to Moderate Open-Angle Glaucoma Subjects With Cataract Treated With Cataract Surgery Plus One Trabecular Micro-bypass Stent and One Suprachoroidal Stent Unknown status NCT03255785 Phase 4
3 Relevance of Eye Dominance in the Selection of Patients Suitable for Treatment With Monovision After Cataract Surgery Unknown status NCT01382641 Phase 4
4 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
5 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
6 Topical 0,09% Bromfenac for Intraoperative Miosis and Pain Reduction in Femtosecond Laser-assisted Cataract Surgery Unknown status NCT03831984 Phase 4 0,09% Bromfenac;0,1% sodium hyaluronate
7 A Study to Assess the Clinical Outcomes of Surgical Phaco Segmentation Techniques in Patients Undergoing Cataract Surgery Unknown status NCT02843594 Phase 4
8 The Effect of Pretreated Gabapentin on Hyeralgesia Occurring in the Second Operation in Staged Bilateral Cataract Surgery Unknown status NCT02127853 Phase 4 gabapentin;placebo
9 Clinical Investigation of the Modified Rayner Monofocal Aspheric 600C (With Axis Marks) Intraocular Lens Unknown status NCT02378636 Phase 4
10 Combined Subconjunctival Atropine and Intracameral Epinephrine Injection for Pupil Dilation in Phacoemulsification Under Peribulbar Anesthesia. Unknown status NCT03638726 Phase 4 Atropine sulfate and epinephrine;Topical cyclopentolate and phenylephrine
11 A Randomised Intra-patient Comparison of Closed Loop and Plate Haptic Toric, Aspheric, Aberration Neutral, Hydrophilic Acrylic Intraocular Lenses in Patients With Bilateral Astigmatism Unknown status NCT02264457 Phase 4
12 Visual Performance Following Implantation of a Hydrophobic Aspheric Monofocal Intraocular Lens Unknown status NCT03819582 Phase 4
13 AMO's Tecnis™ Multifocal Intraocular Lenses (Tecnis MF), Alcon's ReStor Multifocal IOL Unknown status NCT01278420 Phase 4
14 Efficacy of Subtenon Anesthesia With Olive Tipped Cannula: a Randomized Controlled Trial Unknown status NCT01019018 Phase 4
15 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
16 Randomized, Masked Comparison of Bromfenac and Besifloxacin BID With Either Prednisolone BID or Loteprednol 0.5% BID for Prevention of Retinal Thickening and CME Following Phacoemulsification Unknown status NCT01193504 Phase 4 Pred Forte;Lotemax
17 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
18 Intraidivisual Comparison of Functional Vision Provided by AMO Tecnis Z9000 and ALcon SA60AT Acrysof Posterior Chamber Intraocular Lenses Completed NCT00459303 Phase 4
19 Effect of Nepafenac on Post-operative Cystoid Macular Edema Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
20 Protein Profile of Immunoregulatory Factors in Diabetic Cataract Completed NCT01832311 Phase 4 Ketorolac
21 Dexmedetomidine vs. Propofol for Monitored Anesthesia Care During Cataract Completed NCT00786370 Phase 4 dexmedetomidine;Propofol;Dexemedetomidine
22 Comparison of Acular LS With Lotemax to Prevent Anterior Segment Inflammation After Phacoemulsification and Intraocular Lens Implantation Completed NCT00366691 Phase 4 Acular LS;Lotemax
23 Clinical Outcomes After Bilateral Implantation of ZEISS AT LISA TRI AND TRI TORIC IOL Completed NCT02770924 Phase 4
24 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
25 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
26 DisCoVisc Versus Competitor Completed NCT00712244 Phase 4
27 Indomethacin Eyedrops Compared With Ketorolac Eyedrops for Ocular Inflammation Following Cataract Surgery Completed NCT00904904 Phase 4 Indomethacin ophthalmic solution;Ketorolac Ophthalmic Solution
28 A Multi-centre, Multi-surgeon, Randomized, Controlled, Prospective, Post-Market-Clinical-Follow-Up Study to Investigate the Impact of Cataract Grade on the Efficacy and Safety of Femtosecond-laser Assisted Lens Fragmentation Procedure Completed NCT01971177 Phase 4
29 A Randomized, Subject-masked Comparison of Visual Function After Bilateral Implantation of Presbyopia-correcting IOLs Completed NCT00963560 Phase 4
30 To Compare the Ability of DiscoVisc® Ophthalmic Viscosurgical Device (OVD) to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery. Completed NCT00763360 Phase 4 Healon;Amvisc Plus
31 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
32 A Randomized, Subject-masked Comparison of Visual Function After Bilateral Implantation of Presbyopia-correcting IOLs Completed NCT01166971 Phase 4
33 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
34 Phase IV Study: A Prospective Two-Site Study to Evaluate the Safety and Tolerance of Besivance Versus Vigamox Prophylactically Pre and Post Operatively in Subjects Undergoing Routine Cataract Surgery Completed NCT01455233 Phase 4 besivance;vigamox
35 Influence of Light-filters in IOLs on Color Perception and Contrast Acuity. A Randomized, Double-masked Study With Intraindividual Comparison. Completed NCT00612729 Phase 4
36 Clinical Outcomes of Bromday (Bromfenac Ophthalmic Solution) 0.09% QD vs. Nevanac (Nepafenac Ophthalmic Suspension) 0.1% TID for Treatment of Ocular Inflammation Associated With Cataract Surgery Completed NCT01310127 Phase 4 Bromfenac;Nepafenac
37 Monocular Study to Evaluate the Safety and Effectiveness of the Akreos™ Toric IOL When Used to Correct Primary Aphakia With the Reduction of Astigmatism Completed NCT00825513 Phase 4
38 Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial Completed NCT01279031 Phase 4
39 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
40 Effectiveness of Liposomial Ozonized-Oil on Ocular Microbial Flora Before Cataract Surgery Completed NCT04087733 Phase 4 OZODROP
41 Clinical Evaluation of a New Aspheric Intraocular Lens. A Prospective, Multi-Center, Comparative Study. Completed NCT00786565 Phase 4
42 A Study of Sodium Carboxymethylcellulose for Post Cataract Surgery Dry Eye Symptoms Completed NCT02028754 Phase 4 Sodium Carboxymethylcellulose;Levofloxacin;Prednisolone
43 Parallel-group Study of Ocular Penetration of Peri-operative Topically Administered Fluoroquinolones With Cataract Surgery Completed NCT00924729 Phase 4 Moxifloxacin 0.5% ophthalmic solution;Besifloxacin 0.6% ophthalmic suspension
44 Visual Function After Bilateral Implantation of AcrySof® Toric Completed NCT00758550 Phase 4
45 Intraoperative Floppy Iris Syndrome Completed NCT00711347 Phase 4
46 Bromfenac 0.09% Versus Dexamethasone 0.1% Ophthalmic Solutions to Reduce Inflammation After Cataract Surgery Completed NCT03317847 Phase 4 Bromfenac 0.09 % Ophthalmic Solution;Dexamethasone 0.1% ophthalmic suspension
47 A Prospective, Post-Market-Clinical-Follow-Up Study to Investigate the Long-term (3 Months) Safety of Femtosecond-laser Assisted Cataract Surgery Completed NCT02023437 Phase 4
48 A Single Centre Study to Analyze Cataract Surgery Following Femtosecond Laser-Assisted and Manual Cataract Surgery Completed NCT01769313 Phase 4
49 Co-Axial Micro-incision Cataract Surgery(C-MICS) Versus Standard Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 Phase 4
50 A Randomised Trial of Torsional Ultrasound Versus Longitudinal Ultrasound During Phacoemulsification of Age-related Cataracts: Comparison of Intra-operative Performance and Impact on Post-operative Endothelium Integrity Completed NCT01010490 Phase 4

Search NIH Clinical Center for Cataract

Genetic Tests for Cataract

Genetic tests related to Cataract:

# Genetic test Affiliating Genes
1 Cataract (disease) 29

Anatomical Context for Cataract

MalaCards organs/tissues related to Cataract:

40
Eye, Endothelial, Retina, Bone Marrow, Skin, Cortex, Prostate
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cataract:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Lens Affected by disease

Publications for Cataract

Articles related to Cataract:

(show top 50) (show all 38493)
# Title Authors PMID Year
1
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 61 6
25130867 2014
2
The Association of Socioeconomic Status with the Burden of Cataract-related Blindness and the Effect of Ultraviolet Radiation Exposure: An Ecological Study. 61 42
33685568 2021
3
Cataract risk stratification and prioritisation protocol in the COVID-19 era. 61 42
33596884 2021
4
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
5
OUR EXPERIENCE WITH ACTIVE SENTRY AND CENTURION OZIL HANDPIECES. 42
33740863 2021
6
In vivo lens deficiency of the R49C alphaA-crystallin mutant. 54 61
20188090 2010
7
Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report. 61 54
20450308 2010
8
A novel human CRYGD mutation in a juvenile autosomal dominant cataract. 54 61
20508808 2010
9
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. 61 54
20511138 2010
10
Oxidative stress markers in patients with primary open-angle glaucoma. 61 54
20373896 2010
11
[Progress in pathogenic genes and their functions of congenital cataract]. 54 61
20450675 2010
12
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. 61 54
20361015 2010
13
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). 61 54
20141356 2010
14
HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. 54 61
20502647 2010
15
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. 61 54
20019893 2009
16
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA. 54 61
19967157 2009
17
[Hereditary hyperferritinemia cataract syndrome--the first family in Germany]. 61 54
19994473 2009
18
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and senile cataract in a Sardinian male population, Italy. 61 54
19995205 2009
19
Synergistic effects of metal ion and the pre-senile cataract-causing G98R alphaA-crystallin: self-aggregation propensities and chaperone activity. 54 61
19862354 2009
20
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 54 61
19645626 2009
21
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. 54 61
19595763 2009
22
[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. 54 61
19806578 2009
23
Effects of alpha-crystallin on lens cell function and cataract pathology. 54 61
19860667 2009
24
Age-related cataracts and Prdx6: correlation between severity of lens opacity, age and the level of Prdx 6 expression. 61 54
19429582 2009
25
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract. 61 54
19668596 2009
26
EPHA2 is associated with age-related cortical cataract in mice and humans. 54 61
19649315 2009
27
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. 61 54
19633732 2009
28
Antioxidant status modifications by topical administration of dorzolamide in primary open-angle glaucoma. 61 54
19551670 2009
29
Aquaporins: translating bench research to human disease. 54 61
19448080 2009
30
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. 54 61
19503744 2009
31
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region. 61 54
19254706 2009
32
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 61 54
19461931 2009
33
Topical use of coenzyme Q10-loaded liposomes coated with trimethyl chitosan: tolerance, precorneal retention and anti-cataract effect. 54 61
19437594 2009
34
Deletion of mouse MsrA results in HBO-induced cataract: MsrA repairs mitochondrial cytochrome c. 54 61
19461988 2009
35
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. 61 54
19461930 2009
36
NMR study of the cataract-linked P23T mutant of human gammaD-crystallin shows minor changes in hydrophobic patches that reflect its retrograde solubility. 54 61
19275895 2009
37
Aquaporin water channels in mammals. 61 54
19085041 2009
38
Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. 61 54
19224648 2009
39
Genetics of crystallins: cataract and beyond. 54 61
19007775 2009
40
Mitochondrial function and redox control in the aging eye: role of MsrA and other repair systems in cataract and macular degenerations. 54 61
18588875 2009
41
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. 54 61
19222835 2009
42
N-Acetylcarnosine sustained drug delivery eye drops to control the signs of ageless vision: glare sensitivity, cataract amelioration and quality of vision currently available treatment for the challenging 50,000-patient population. 61 54
19503764 2009
43
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 61 54
19262743 2009
44
Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. 61 54
19321936 2009
45
Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin. 54 61
19071118 2009
46
Oxidative stress markers in aqueous humor of patients with senile cataracts. 54 61
19172468 2009
47
Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts. 54 61
19096783 2009
48
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 54 61
19004499 2009
49
Synergistic effect of osmotic and oxidative stress in slow-developing cataract formation. 54 61
18760274 2008
50
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 61 54
18478038 2008

Variations for Cataract

ClinVar genetic disease variations for Cataract:

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) SNV Pathogenic 156553 rs587783070 GRCh37: 1:220316451-220316451
GRCh38: 1:220143109-220143109
2 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
3 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 GRCh37: 5:138525416-138537243
GRCh38:
4 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 GRCh37: 5:138525416-138537243
GRCh38:
5 LIM2 NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) SNV Pathogenic 625113 rs1568480054 GRCh37: 19:51883831-51883831
GRCh38: 19:51380577-51380577
6 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) SNV Likely pathogenic 523328 rs1554781700 GRCh37: 9:137593133-137593133
GRCh38: 9:134701287-134701287
7 WRN NM_000553.6(WRN):c.724+1G>T SNV Likely pathogenic 523380 rs1339616347 GRCh37: 8:30925844-30925844
GRCh38: 8:31068328-31068328
8 COPB1 NM_001144061.2(COPB1):c.957+1G>T SNV Likely pathogenic 996016 GRCh37: 11:14504577-14504577
GRCh38: 11:14483031-14483031
9 COPB1 NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val) SNV Likely pathogenic 996037 GRCh37: 11:14496127-14496127
GRCh38: 11:14474581-14474581
10 COL18A1 NM_030582.4(COL18A1):c.1469-2A>G SNV Likely pathogenic 373962 rs765919785 GRCh37: 21:46897323-46897323
GRCh38: 21:45477409-45477409
11 COL18A1 , SLC19A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter) SNV Likely pathogenic 373961 rs1057518802 GRCh37: 21:46929468-46929468
GRCh38: 21:45509554-45509554
12 PITX2 NM_000325.6(PITX2):c.*119T>A SNV Uncertain significance 347297 rs765040142 GRCh37: 4:111539162-111539162
GRCh38: 4:110618006-110618006
13 PITX2 NM_153427.2(PITX2):c.-1421G>C SNV Uncertain significance 899913 GRCh37: 4:111563111-111563111
GRCh38: 4:110641955-110641955
14 PITX2 NM_153427.2(PITX2):c.-1422C>A SNV Uncertain significance 899914 GRCh37: 4:111563112-111563112
GRCh38: 4:110641956-110641956
15 PITX2 NM_000325.6(PITX2):c.*173G>A SNV Uncertain significance 900360 GRCh37: 4:111539108-111539108
GRCh38: 4:110617952-110617952
16 PITX2 NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) SNV Uncertain significance 900415 GRCh37: 4:111539561-111539561
GRCh38: 4:110618405-110618405
17 PITX2 NM_000325.6(PITX2):c.282G>T (p.Arg94=) SNV Uncertain significance 900537 GRCh37: 4:111542449-111542449
GRCh38: 4:110621293-110621293
18 PITX2 NM_153427.2(PITX2):c.-300A>T SNV Uncertain significance 900657 GRCh37: 4:111558226-111558226
GRCh38: 4:110637070-110637070
19 PITX2 NM_153427.2(PITX2):c.-483C>T SNV Uncertain significance 900734 GRCh37: 4:111558409-111558409
GRCh38: 4:110637253-110637253
20 PITX2 NM_153427.2(PITX2):c.-515C>T SNV Uncertain significance 899666 GRCh37: 4:111558441-111558441
GRCh38: 4:110637285-110637285
21 PITX2 NM_000325.6(PITX2):c.*696A>C SNV Uncertain significance 901346 GRCh37: 4:111538585-111538585
GRCh38: 4:110617429-110617429
22 PITX2 NM_000325.6(PITX2):c.*687A>G SNV Uncertain significance 901347 GRCh37: 4:111538594-111538594
GRCh38: 4:110617438-110617438
23 PITX2 NM_000325.6(PITX2):c.*107A>C SNV Uncertain significance 901514 GRCh37: 4:111539174-111539174
GRCh38: 4:110618018-110618018
24 PITX2 NM_153427.2(PITX2):c.-1491G>A SNV Uncertain significance 901089 GRCh37: 4:111563181-111563181
GRCh38: 4:110642025-110642025
25 PITX2 NM_153427.2(PITX2):c.-1092G>A SNV Uncertain significance 899797 GRCh37: 4:111559018-111559018
GRCh38: 4:110637862-110637862
26 PITX2 NM_153427.2(PITX2):c.-670C>T SNV Uncertain significance 900813 GRCh37: 4:111558596-111558596
GRCh38: 4:110637440-110637440
27 PITX2 NM_153427.2(PITX2):c.-1137G>A SNV Uncertain significance 902615 GRCh37: 4:111559063-111559063
GRCh38: 4:110637907-110637907
28 PITX2 NM_000325.6(PITX2):c.*440C>T SNV Uncertain significance 902850 GRCh37: 4:111538841-111538841
GRCh38: 4:110617685-110617685
29 PITX2 NM_153427.2(PITX2):c.-245G>A SNV Uncertain significance 899519 GRCh37: 4:111558171-111558171
GRCh38: 4:110637015-110637015
30 PITX2 NM_153427.2(PITX2):c.-429C>G SNV Uncertain significance 899596 GRCh37: 4:111558355-111558355
GRCh38: 4:110637199-110637199
31 PITX2 NM_153427.2(PITX2):c.-920C>T SNV Uncertain significance 899730 GRCh37: 4:111558846-111558846
GRCh38: 4:110637690-110637690
32 PITX2 NM_000325.6(PITX2):c.412-7C>T SNV Uncertain significance 899414 GRCh37: 4:111539851-111539851
GRCh38: 4:110618695-110618695
33 PITX2 NM_153427.2(PITX2):c.-40G>A SNV Uncertain significance 899457 GRCh37: 4:111557966-111557966
GRCh38: 4:110636810-110636810
34 PITX2 NM_153427.2(PITX2):c.-53G>A SNV Uncertain significance 899458 GRCh37: 4:111557979-111557979
GRCh38: 4:110636823-110636823
35 PITX2 NM_153427.2(PITX2):c.-270A>G SNV Uncertain significance 899520 GRCh37: 4:111558196-111558196
GRCh38: 4:110637040-110637040
36 PITX2 NM_153427.2(PITX2):c.-436G>C SNV Uncertain significance 899597 GRCh37: 4:111558362-111558362
GRCh38: 4:110637206-110637206
37 PITX2 NM_153427.2(PITX2):c.-501T>G SNV Uncertain significance 899665 GRCh37: 4:111558427-111558427
GRCh38: 4:110637271-110637271
38 PITX2 NM_153427.2(PITX2):c.-966A>G SNV Uncertain significance 899731 GRCh37: 4:111558892-111558892
GRCh38: 4:110637736-110637736
39 PITX2 NM_153427.2(PITX2):c.-1078C>A SNV Uncertain significance 899796 GRCh37: 4:111559004-111559004
GRCh38: 4:110637848-110637848
40 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] Microsatellite Uncertain significance 347292 rs886059004 GRCh37: 4:111538903-111538905
GRCh38: 4:110617747-110617749
41 PITX2 NM_000325.6(PITX2):c.*264A>C SNV Uncertain significance 347295 rs886059006 GRCh37: 4:111539017-111539017
GRCh38: 4:110617861-110617861
42 PITX2 NM_000325.6(PITX2):c.*522T>C SNV Uncertain significance 347290 rs188349821 GRCh37: 4:111538759-111538759
GRCh38: 4:110617603-110617603
43 CRYGD , LOC100507443 NM_006891.3(CRYGD):c.-80A>C SNV Uncertain significance 333880 rs886055528 GRCh37: 2:208989277-208989277
GRCh38: 2:208124553-208124553
44 MIP NM_012064.4(MIP):c.*1237_*1238dup Duplication Uncertain significance 309864 rs111463603 GRCh37: 12:56843825-56843826
GRCh38: 12:56450041-56450042
45 MIP NM_012064.4(MIP):c.*148dup Duplication Uncertain significance 309881 rs35639464 GRCh37: 12:56844915-56844916
GRCh38: 12:56451131-56451132
46 MIP NM_012064.4(MIP):c.*1777dup Duplication Uncertain significance 309861 rs886049688 GRCh37: 12:56843286-56843287
GRCh38: 12:56449502-56449503
47 HSF4 NM_001538.3(HSF4):c.*158_*159dupTT Duplication Uncertain significance 320194 rs3215366 GRCh37: 16:67203835-67203836
GRCh38: 16:67169932-67169933
48 PITX2 NM_000325.6(PITX2):c.*176A>T SNV Uncertain significance 347296 rs567517676 GRCh37: 4:111539105-111539105
GRCh38: 4:110617949-110617949
49 MIP NM_012064.4(MIP):c.*132del Deletion Uncertain significance 309882 rs886049691 GRCh37: 12:56844932-56844932
GRCh38: 12:56451148-56451148
50 HSF4 NM_001040667.3(HSF4):c.*30del Deletion Uncertain significance 320192 rs756298250 GRCh37: 16:67203717-67203717
GRCh38: 16:67169814-67169814

Copy number variations for Cataract from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 86882 14 67000000 106368585 Copy number cataract
2 89231 15 17000000 100338915 Copy number cataract
3 106728 17 1 11200000 Copy number cataract

Expression for Cataract

Search GEO for disease gene expression data for Cataract.

Pathways for Cataract

Pathways related to Cataract according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Cataract

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJA8 GJA3
2 connexin complex GO:0005922 8.62 GJA8 GJA3

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.5 RHO GJA3 CRYGS CRYGD CRYBB3 CRYBA1
2 gap junction-mediated intercellular transport GO:1990349 9.16 GJA8 GJA3
3 lens development in camera-type eye GO:0002088 9.1 LIM2 GJA8 CRYGS CRYGD CRYBB3 CRYBA1

Molecular functions related to Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.1 LIM2 CRYGS CRYGD CRYBB3 CRYBA1 CRYAA
2 gap junction channel activity GO:0005243 8.96 GJA8 GJA3

Sources for Cataract

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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