MCID: IRS003
MIFTS: 32

Iris Disease

Categories: Eye diseases

Aliases & Classifications for Iris Disease

MalaCards integrated aliases for Iris Disease:

Name: Iris Disease 12 14
Iris Diseases 42 69

Classifications:



External Ids:

Disease Ontology 12 DOID:240
MeSH 42 D007499
NCIt 47 C34737
UMLS 69 C0022078

Summaries for Iris Disease

MalaCards based summary : Iris Disease, also known as iris diseases, is related to hypogonadotropic hypogonadism 24 without anosmia and epileptic encephalopathy, early infantile, 31. 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 Efavirenz have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and liver, 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 50)
id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 24 without anosmia 10.7 ELP4 PAX6
2 epileptic encephalopathy, early infantile, 31 10.7 PAX6 WT1
3 acquired hyperkeratosis 10.7 OPTN PHEX
4 mixed gonadal dysgenesis 10.7 OPTN PHEX
5 multiple cranial nerve palsy 10.6 OPTN PEX19
6 anal spasm 10.6 OPTN PAX6
7 lower gum cancer 10.5 MRAP WT1
8 acute maxillary sinusitis 10.5 MRAP PHEX
9 urticaria 10.5 MRAP PEX19
10 autosomal dominant nocturnal frontal lobe epilepsy 2 10.4 LOXL1 PITX2
11 cataract 11, multiple types 10.4 PAX6 PITX2
12 coloboma of optic nerve 10.4 ELP4 PAX6
13 peptic esophagitis 10.4 CRYAA PHEX
14 amyotrophic lateral sclerosis 12 10.4 LOXL1 OPTN PHEX
15 jag1-related alagille syndrome 10.4 FOXC1 PAX6
16 perineurioma 10.4 MRAP OPTN
17 wrinkles 10.4 FSHB PAX6 WT1
18 asthenopia 10.3 CRYAA PAX6
19 acute allergic mucoid otitis media 10.3 MRAP OPTN
20 hypertrichotic osteochondrodysplasia cantu type 10.2 FOXC1 OPTN
21 ring dermoid of cornea 10.2 PAX6 PITX2
22 lacrimal duct obstruction 10.1 IGF2 PAX6
23 larsen-like syndrome 10.1 FOXC1 PITX2
24 bullous keratopathy 10.1 CRYAA PAX6
25 cardiac arrhythmia, ankyrin-b-related 10.1 FOXC1 PITX2
26 conjugate gaze palsy 10.0 CRYAA MRAP OPTN
27 hemoglobin zurich 10.0 IGF2 WT1
28 optic atrophy plus syndrome 10.0 LOXL1 OPTN
29 proliferative glomerulonephritis 10.0 IGF2 WT1
30 cervical wilms' tumor 9.9 IGF2 PAX6 WT1
31 adrenal cortical hypofunction 9.9 FOXC1 PAX6 PITX2
32 parietal foramina 9.9 FOXC1 PAX6 PITX2
33 breast-ovarian cancer, familial, 2 9.9 FOXC1 PAX6 PITX2
34 conjunctival folliculosis 9.8 FOXC1 OPTN PITX2
35 mitral valve prolapse, myxomatous 3 9.8 FOXC1 OPTN PITX2
36 taeniasis 9.8 FOXC1 OPTN PITX2
37 hallux varus and preaxial polysyndactyly 9.8 IGF2 OPTN
38 nail disorder, nonsyndromic congenital, 1 9.8 FOXC1 OPTN PITX2
39 hyperbiliverdinemia 9.8 IGF2 PAX6 WT1
40 mediastinum rhabdomyosarcoma 9.7 IGF2 WT1
41 algoneurodystrophy 9.7 CRYAA IGF2
42 anorectal stricture 9.7 CRYAA OPTN PAX6 PEX19 PHEX
43 olecranon bursitis 9.7 CRYAA LOXL1 OPTN PEX19 PHEX
44 menkes disease 9.6 IGF2 WT1
45 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 9.6 FOXC1 OPTN PAX6 PITX2
46 type i ehlers-danlos syndrome 9.6 FOXC1 OPTN PAX6 PITX2
47 isolated microphthalmia 9.6 ELP4 FOXC1 PAX6 PITX2
48 lactocele 9.3 FOXC1 OPTN PAX6 PHEX PITX2
49 anterior segment dysgenesis 5, multiple subtypes 9.3 ELP4 FOXC1 PAX6 PITX2 WT1
50 skin granular cell tumor 5.5 CRYAA DCDC5 ELP4 FOXC1 FSHB IGF2

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:

44
id 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 FOXC1 FSHB IGF2 LOXL1 PAX6 PITX2
3 respiratory system MP:0005388 9.1 FOXC1 IGF2 LOXL1 PAX6 PITX2 WT1

Drugs & Therapeutics for Iris Disease

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

(show top 50) (show all 367)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
2
Efavirenz Approved, Investigational Phase 4,Phase 3 154598-52-4 64139
3
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
4
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
5
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3 9004-61-9 53477741 24759
6
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
9
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
10
Heparin Approved, Investigational Phase 4,Phase 2 9005-49-6 772 46507594
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
12
Ephedrine Approved Phase 4,Phase 3,Phase 1,Phase 2 299-42-3 9294
13
Pseudoephedrine Approved Phase 4,Phase 3,Phase 1,Phase 2 90-82-4 7028
14
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
15
Rifampin Approved Phase 4 13292-46-1 5458213 5381226
16
Lopinavir Approved Phase 4 192725-17-0 92727
17
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
18
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
19
Dipivefrin Approved Phase 4,Phase 3 52365-63-6 3105
20
Oxymetazoline Approved Phase 4,Phase 3 1491-59-4 4636
21
Phenylephrine Approved Phase 4,Phase 3 59-42-7 6041
22
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
23
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
24
Dopamine Approved Phase 4,Phase 2,Phase 1 51-61-6, 62-31-7 681
25
Certolizumab pegol Approved Phase 4 428863-50-7
26
Citalopram Approved Phase 4 59729-33-8 2771
27
Norepinephrine Approved Phase 4 51-41-2 439260
28
Sertraline Approved Phase 4,Phase 3 79617-96-2 68617
29
Palbociclib Approved Phase 4 571190-30-2 11431660 5005498 5330286
30
Natalizumab Approved, Investigational Phase 4,Phase 1 189261-10-7
31
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
32
Exemestane Approved, Investigational Phase 4 107868-30-4 60198
33
Fulvestrant Approved, Investigational Phase 4 129453-61-8 104741 17756771
34
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
35
Maleic acid Experimental Phase 4,Phase 2 110-16-7 444266
36
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
37 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
39 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Antitubercular Agents Phase 4,Phase 3,Phase 2
41 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Adrenergic Antagonists Phase 4,Phase 3
43 Adrenergic beta-Antagonists Phase 4,Phase 3
44 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
45 Antihypertensive Agents Phase 4,Phase 3,Phase 2
46 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Analgesics Phase 4,Phase 3,Phase 2
48 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
49 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 341)

id 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 Evaluation of the Effectiveness of Antibiotic Prophylaxis in Children With a Previous Urinary Tract Infection Unknown status NCT00156546 Phase 4 antibiotic to reduce the recurrence of infection
3 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
4 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
5 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
6 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
7 Immediate Versus Deferred Start of Anti-HIV Therapy in HIV-Infected Adults Being Treated for Tuberculosis Completed NCT00108862 Phase 4
8 When to Start Anti-HIV Drugs in Patients With Opportunistic Infections Completed NCT00055120 Phase 4 Emtricitabine/tenofovir disoproxil fumarate;Lopinavir/ritonavir;Stavudine
9 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
10 Intraoperative Floppy Iris Syndrome Completed NCT00711347 Phase 4
11 The Study to Compare SMART Nitinol Stent and Balloon Angioplasty Completed NCT00309595 Phase 4
12 Anti-Retrovirals for Kaposi's Sarcoma Completed NCT00444379 Phase 4 Lopinavir/ritonavir plus Emtricitabine/Tenofovir versus Efavirenz plus Emtricitabine/Tenofovir
13 2.5% and 10% Phenylephrine for Mydriasis in Diabetic Patients With Darkly Pigmented Irides Completed NCT00501878 Phase 4 2.5% or 10% phenylephrine
14 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
15 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 Recruiting NCT03020992 Phase 4 Certolizumab Pegol
16 Topical 2% Ganciclovir Eye Drop for CMV Anterior Uveitis / Endotheliitis Recruiting NCT02943057 Phase 4 2% guttae ganciclovir
17 Prednisolone Addition for Patients With Recent-onset Psychotic Disorder Recruiting NCT02949232 Phase 4 Prednisolone;Placebo Oral Tablet
18 International Study to Predict Optimised Treatment - in Depression Recruiting NCT00693849 Phase 4 Escitalopram;Sertraline;Venlafaxine-XR
19 Standard Versus High Dose Inactivated Influenza Vaccine in RA Enrolling by invitation NCT02936180 Phase 4
20 Open Label Study of Acthar SQ Gel Injection in Patients With Active Anterior Uveitis Not yet recruiting NCT02769702 Phase 4 Acthar
21 Impact of eHealth-support on Quality of Life in Metastatic Breast Cancer Patients Treated With Palbociclib and Endocrine Therapy Not yet recruiting NCT03220178 Phase 4 Palbociclib;Fulvestrant;Anastrozole;Letrozole;Exemestane
22 Appropriate Timing of HAART in Co-infected HIV/TB Patients Terminated NCT01014481 Phase 4 tenofovir, lamivudine, efavirenz
23 Study of TRAVATAN in Subjects With Iris Pigmentation Changes Terminated NCT00047554 Phase 4 Travoprost, 0.004% ophthalmic solution
24 Corticosteroids for Immune Reconstitution Inflammatory Syndrome (IRIS) Terminated NCT01211665 Phase 4 Methylprednisolone;Prednisolone
25 Effect of Methylphenidate on Connectivity Withdrawn NCT01764672 Phase 4 Methylphenidate
26 Efficacy of a Capsular Tension Ring in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome Unknown status NCT01455168 Phase 3
27 Rio Trial - ReoPro and Peripheral Arterial Intervention to Improve Clinical Outcome in Patients With Peripheral Arterial Disease Unknown status NCT00156611 Phase 2, Phase 3 ReoPro
28 Adalimumab for the Management of Post-operative Crohn's Disease (CD) Unknown status NCT01629628 Phase 3 Adalimumab;6 Mercaptopurine
29 Argon Laser Peripheral Iridoplasty for Primary Angle Closure Glaucoma Unknown status NCT00980473 Phase 3 Travatan/ Timolol/Azopt
30 Cap+Bev vs Cap+Iri+Bev 1st-line Therapy in mCRC Unknown status NCT01249638 Phase 3 Capecitabine;Bevacizumab;Capecitabine;Irinotecan;Bevacizumab
31 Randomized Trial of Beta-Carotene and Macular Degeneration Unknown status NCT00000152 Phase 3 Aspirin;Beta-Carotene
32 Trial of FOLF(HA)Iri Versus FOLFIRI in mCRC Unknown status NCT01290783 Phase 3 Irintoecan;HA-Irinotecan solution for Infusion
33 Study of Difluprednate Ophthalmic Emulsion in the Treatment of Uveitis Completed NCT00406887 Phase 3 Difluprednate Ophthalmic Emulsion
34 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
35 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
36 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
37 Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
38 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
39 12-Week Efficacy and Safety Study of Ibodutant in Women With Irritable Bowel Syndrome With Diarrhea (IBS-D) Completed NCT02107196 Phase 3 Ibodutant 10 mg;Placebo
40 Central Vein Occlusion Study (CVOS) Completed NCT00000131 Phase 3
41 Insulin Resistance Intervention After Stroke Trial Completed NCT00091949 Phase 3 pioglitazone;placebo
42 Effect of LY2062430 on the Progression of Alzheimer's Disease Completed NCT00904683 Phase 3 LY2062430;Placebo
43 Lu AE58054 in Patients With Mild to Moderate Alzheimer's Disease Treated With an Acetylcholinesterase Inhibitor Completed NCT02006654 Phase 3 Placebo;Lu AE58054
44 Trial Comparing Two Two Sequences of Therapy in Colorectal Metastatic Patients Completed NCT01030042 Phase 3 FOLFOX-4;Irinotecan/Cetuximab
45 Treatment of Hypercholesterolaemia in South Asian Subjects (IRIS) Completed NCT00654225 Phase 3 Rosuvastatin;Atorvastatin
46 Bevacizumab and Long Acting Gas in Diabetic Vitrectomy Completed NCT00656435 Phase 3 Bevacizumab
47 A 5-Year Postmarketing Safety Study Of Xalcom In Patients With Open Angle Glaucoma Or Ocular Hypertension Completed NCT00150267 Phase 3 Xalacom
48 Hepatic Arterial Infusion With Melphalan Compared With Standard Therapy in Treating Patients With Unresectable Liver Metastases Due to Melanoma Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
49 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
50 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%)

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:

39
Eye, Endothelial, Liver, Testes, Breast, Kidney, Bone

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:

id 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:

id 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:

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

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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