MCID: IRS003
MIFTS: 31

Iris Disease

Categories: Eye diseases

Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease 12 14
Iris Diseases 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:240
MeSH 41 D007499
NCIt 46 C34737
UMLS 69 C0022078

Summaries for Iris Disease

MalaCards based summary : Iris Disease, also known as iris diseases, is related to aniridia 2 and traumatic glaucoma. An important gene associated with Iris Disease is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drugs Timolol and Ganciclovir have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotypes are digestive/alimentary and reproductive system

Related Diseases for Iris Disease

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 10.5 ELP4 PAX6
2 traumatic glaucoma 10.4 OPTN PHEX
3 glaucoma, normal tension 10.4 LOXL1 OPTN
4 chronic closed-angle glaucoma 10.4 OPTN PHEX
5 scleral staphyloma 10.4 OPTN PAX6
6 acute closed-angle glaucoma 10.4 OPTN PEX19
7 congenital aphakia 10.3 OPTN PAX6
8 glaucoma-related pigment dispersion syndrome 10.3 LOXL1 PITX2
9 granuloma inguinale 10.2 MRAP WT1
10 enthesopathy 10.2 MRAP PHEX
11 isolated aniridia 10.2 FOXC1 PAX6
12 morgagni cataract 10.2 CRYAA PHEX
13 glaucoma, primary open angle 10.2 LOXL1 OPTN PHEX
14 anterior segment dysgenesis 1 10.2 PAX6 PITX2
15 conjunctival degeneration 10.1 CRYAA PAX6
16 endophthalmitis 10.1 MRAP OPTN
17 purulent endophthalmitis 10.1 MRAP OPTN
18 ritscher-schinzel syndrome 10.1 FOXC1 OPTN
19 axenfeld-rieger syndrome, type 1 10.0 PAX6 PITX2
20 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
21 pseudopapilledema 10.0 IGF2 PAX6
22 hemihyperplasia, isolated 10.0 IGF2 WT1
23 anterior segment dysgenesis 4 10.0 FOXC1 PITX2
24 blood group, globoside system 9.9 CRYAA MRAP OPTN
25 hereditary wilms' tumor 9.9 IGF2 PAX6 WT1
26 wilms tumor 5 9.9 IGF2 PAX6 WT1
27 intestinal atresia 9.9 FOXC1 PAX6 PITX2
28 congenital mesoblastic nephroma 9.9 IGF2 WT1
29 persistent hyperplastic primary vitreous 9.9 FOXC1 PAX6 PITX2
30 peters-plus syndrome 9.8 FOXC1 PAX6 PITX2
31 pinguecula 9.8 CRYAA PAX6
32 hydrophthalmos 9.8 FOXC1 OPTN PITX2
33 axenfeld-rieger syndrome, type 2 9.8 FOXC1 OPTN PITX2
34 primary congenital glaucoma 9.8 FOXC1 OPTN PITX2
35 phacogenic glaucoma 9.7 CRYAA LOXL1 OPTN PEX19 PHEX
36 hallermann-streiff syndrome 9.6 IGF2 OPTN
37 rubeosis iridis 9.6 CRYAA IGF2
38 glaucoma 3, primary congenital, a 9.6 FOXC1 OPTN PAX6 PITX2
39 axenfeld-rieger syndrome 9.6 FOXC1 OPTN PAX6 PITX2
40 intraocular pressure quantitative trait locus 9.6 FOXC1 LOXL1 OPTN PITX2
41 lens disease 9.5 CRYAA LOXL1 OPTN PAX6 PEX19 PHEX
42 juvenile glaucoma 9.4 FOXC1 OPTN PAX6 PHEX PITX2
43 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.4 ELP4 FSHB IGF2 PAX6 WT1
44 ewing sarcoma 9.1 FOXC1 IGF2 OPTN PAX6 WT1
45 aniridia 1 8.0 DCDC5 ELP4 FOXC1 FSHB IGF2 OPTN

Graphical network of the top 20 diseases related to Iris Disease:



Diseases related to Iris Disease

Symptoms & Phenotypes for Iris Disease

MGI Mouse Phenotypes related to Iris Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 FOXC1 IGF2 LOXL1 PAX6 PHEX PITX2
2 reproductive system MP:0005389 9.5 PITX2 WT1 FOXC1 FSHB IGF2 LOXL1
3 respiratory system MP:0005388 9.1 WT1 FOXC1 IGF2 LOXL1 PAX6 PITX2

Drugs & Therapeutics for Iris Disease

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 4,Phase 3 26839-75-8 5478 33624
2
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
3
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
4
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
6
Ephedrine Approved Phase 4,Phase 3,Phase 1,Phase 2 299-42-3 9294
7
Pseudoephedrine Approved Phase 4,Phase 3,Phase 1,Phase 2 90-82-4 7028
8
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
9
Certolizumab pegol Approved Phase 4 428863-50-7
10
Maleic acid Experimental Phase 4 110-16-7 444266
11
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
12 Adrenergic Agents Phase 4,Phase 3
13 Adrenergic Antagonists Phase 4,Phase 3
14 Adrenergic beta-Antagonists Phase 4,Phase 3
15 Anti-Arrhythmia Agents Phase 4,Phase 3
16 Antihypertensive Agents Phase 4,Phase 3,Phase 2
17 Neurotransmitter Agents Phase 4,Phase 3
18 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
19 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Antiviral Agents Phase 4,Phase 1,Phase 2
22 Ganciclovir triphosphate Phase 4
23 Nucleic Acid Synthesis Inhibitors Phase 4
24 Carbonic Anhydrase Inhibitors Phase 4
25 calcium heparin Phase 4
26 Analgesics Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Anti-Bacterial Agents Phase 4,Phase 1
29 Antibiotics, Antitubercular Phase 4,Phase 1
30 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
31 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
34 Antirheumatic Agents Phase 4
35 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1
36 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3
37 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
38 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
39 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
40 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
41 Hormones Phase 4,Phase 3,Phase 2,Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
43 Nasal Decongestants Phase 4,Phase 3,Phase 1,Phase 2
44 Ophthalmic Solutions Phase 4,Phase 3,Phase 2,Phase 1
45 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
46
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Respiratory System Agents Phase 4,Phase 3,Phase 1,Phase 2
48 Tetrahydrozoline Phase 4,Phase 3,Phase 2,Phase 1
49 Vasoconstrictor Agents Phase 4,Phase 3,Phase 1,Phase 2
50 Adrenocorticotropic Hormone Phase 4

Interventional clinical trials:

(show top 50) (show all 83)

# Name Status NCT ID Phase Drugs
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
3 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
4 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
5 Study of H.P. ACTHAR Subcutaneous Gelatin (Gel)(Highly Purified Gel Injection) in Uveitis Patients Completed NCT02764697 Phase 4 H.P. ACTHAR SUBCUTANEOUS GEL INJECTION
6 Open Label Study of Acthar SQ Gel Injection in Patients With Active Anterior Uveitis Recruiting NCT02769702 Phase 4 Acthar
7 Topical 2% Ganciclovir Eye Drop for CMV Anterior Uveitis / Endotheliitis Recruiting NCT02943057 Phase 4 2% guttae ganciclovir
8 A Study to Assess the Effects of Certolizumab Pegol on the Reduction of Anterior Uveitis (AU) Flares in Axial Spondyloarthritis Subjects With a Documented History of AU Active, not recruiting NCT03020992 Phase 4 Certolizumab Pegol
9 Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome Unknown status NCT01455168 Phase 3
10 Study of Difluprednate Ophthalmic Emulsion in the Treatment of Uveitis Completed NCT00406887 Phase 3 Difluprednate Ophthalmic Emulsion
11 A Multi-center Study to Assess the Efficacy and Safety of LX211 in Active Non-infectious Anterior Uveitis Completed NCT00404885 Phase 3 Placebo;LX211;LX211;LX211
12 Safety and Efficacy Study of Iontophoretic Dexamethasone Phosphate Ophthalmic Solution to Treat Non-Infectious Anterior Segment Uveitis Completed NCT01505088 Phase 3 40 mg/mL Dexamethasone phosphate ophthalmic solution;Prednisolone Acetate (1%) Eyedrops;100 mM sodium citrate buffer solution;Placebo Eyedrops
13 Safety and Efficacy of Difluprednate 0.05% for the Treatment of Anterior Uveitis Completed NCT01201798 Phase 3 Difluprednate 0.05% ophthalmic emulsion;Prednisolone acetate 1.0% ophthalmic suspension
14 Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
15 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
16 A Phase 3 Study to Evaluate ADX-102 Ophthalmic Solution in Subjects With Non-infectious Anterior-uveitis. Recruiting NCT03131154 Phase 3 ADX-102 Ophthalmic Solution (0.5%);Vehicle of ADX-102 Ophthalmic Solution
17 Safety and Efficacy of Iontophoretic Dexamethasone Phosphate Ophthalmic Solution in Non-Infectious Anterior Uveitis Recruiting NCT02517619 Phase 3 Dexamethasone Phosphate Ophthalmic Solution;Prednisolone Acetate Ophthalmic (1%)
18 A Study of the Safety and Efficacy of a New Treatment for Non-Infectious Anterior Uveitis Terminated NCT00333996 Phase 2, Phase 3 Dexamethasone
19 Proof of Concept Study to Evaluate Safety and Efficacy of LME636 in the Treatment of Acute Anterior Uveitis Completed NCT02482129 Phase 2 LME636 60 mg/mL ophthalmic solution;Dexamethasone 0.1% ophthalmic solution;LME636 Vehicle
20 A Safety and Efficacy Study of NS2 in Patients With Anterior Uveitis Completed NCT02406209 Phase 2 NS2;Prednisolone acetate ophthalmic suspension (1%)
21 Safety and Efficacy Study of DSP-Visulex for the Treatment of Anterior Uveitis Completed NCT02309385 Phase 1, Phase 2 8% Dexamethasone Sodium Phosphate - Visulex;15% Dexamethasone Sodium Phosphate - Visulex;Prednisolone Acetate (1%) Eye Drops
22 Exploratory Study on Topical ESBA105 in Acute Anterior Uveitis Completed NCT00823173 Phase 2
23 Study of Difluprednate Ophthalmic Emulsion in the Treatment of Uveitis Completed NCT00405496 Phase 2 Difluprednate Ophthalmic Emulsion
24 A Prospective Study to Assess the Hypotensive Efficacy of Rho-Kinase Inhibitor AR-12286 Ophthalmic Solution 0.5% and 0.7% in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma Completed NCT01936389 Phase 2 AR-12286
25 Topical Interferon Gamma for Macular Edema Secondary to Uveitis Completed NCT01376362 Phase 1, Phase 2 Interferon Gamma-1b
26 Human Anti-Tac (Daclizumab) to Treat Juvenile Idiopathic Arthritis (JIA)-Associated Uveitis Completed NCT00130637 Phase 2 Daclizumab
27 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED) Active, not recruiting NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
28 Study of Ataluren in Patients With Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
29 Subconjunctival Sirolimus for the Treatment of Autoimmune Active Anterior Uveiti Completed NCT00876434 Phase 1 Sirolimus
30 Quality of Life and Visual Function in Uveitis Patients Unknown status NCT00407316 Early Phase 1
31 Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma Unknown status NCT02679482
32 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
33 Clinical Outcomes of Topical Ganciclovir Treatment in Cytomegalovirus Anterior Uveitis Unknown status NCT01486693
34 Acute Anterior Uveitis: Psychic Burden and Pain Unknown status NCT01156285
35 LOXL1 Polymorphism in Pseudoexfoliation Syndrome Unknown status NCT01515735
36 The International Collaborative Exfoliation Syndrome Treatment Study Unknown status NCT00804115 Latanoprost with Pilocarpine vs Timolol or Cosopt
37 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796
38 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
39 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Unknown status NCT01795001
40 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
41 Adherence With Fixed Versus Unfixed Glaucoma Therapy Completed NCT01281020
42 Additivity Study: Additive Effect on Eye Pressure of Azopt and Alphagan P to Travatan Completed NCT00121147 Travatan;Azopt;Alphagan P
43 Topical Administration of 0.15% Ganciclovir Gel for CMV Anterior Uveitis / Endotheliitis Completed NCT01647529 Ganciclovir
44 Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty Completed NCT00485108 prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
45 PEMF: an Adjunct Therapy for Anterior Uveitis Completed NCT01154010
46 Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome Completed NCT01298895
47 Aqueous Humor Dynamics and Hypertensive Uveitis Completed NCT02765308
48 Early Diagnosis in Glaucoma With GDxVcc Completed NCT01022281
49 Pseudoexfoliation Syndrome in Myopes Completed NCT01637740
50 Central Corneal Thickness in Glaucoma Completed NCT01023997

Search NIH Clinical Center for Iris Disease

Cochrane evidence based reviews: iris diseases

Genetic Tests for Iris Disease

Anatomical Context for Iris Disease

MalaCards organs/tissues related to Iris Disease:

38
Endothelial, Eye, Testes

Publications for Iris Disease

Variations for Iris Disease

Expression for Iris Disease

Search GEO for disease gene expression data for Iris Disease.

Pathways for Iris Disease

Pathways related to Iris Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 ELP4 FOXC1 PAX6 PITX2

GO Terms for Iris Disease

Cellular components related to Iris Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.23 CRYAA ELP4 FOXC1 OPTN PAX6 PEX19

Biological processes related to Iris Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 FOXC1 FSHB PAX6 PITX2 WT1
2 regulation of transcription by RNA polymerase II GO:0006357 9.76 ELP4 PAX6 PITX2 WT1
3 in utero embryonic development GO:0001701 9.61 FOXC1 IGF2 PITX2
4 skeletal system development GO:0001501 9.43 FOXC1 IGF2 PHEX
5 eye development GO:0001654 9.4 FOXC1 PAX6
6 pituitary gland development GO:0021983 9.37 PAX6 PITX2
7 positive regulation of DNA binding GO:0043388 9.32 FOXC1 PITX2
8 iris morphogenesis GO:0061072 9.16 PAX6 PITX2
9 lacrimal gland development GO:0032808 8.96 FOXC1 PAX6
10 camera-type eye development GO:0043010 8.92 FOXC1 PAX6 PITX2 WT1

Molecular functions related to Iris Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.8 FOXC1 PAX6 PITX2

Sources for Iris Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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