MCID: MCL032
MIFTS: 24

Macular Degeneration, Age-Related, 11

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 11

MalaCards integrated aliases for Macular Degeneration, Age-Related, 11:

Name: Macular Degeneration, Age-Related, 11 54 71 13
Armd11 12 71
Age-Related Macular Degeneration Type 11 69
Age Related Macular Degeneration 11 12
Age-Related Macular Degeneration 11 29

Characteristics:

HPO:

32
macular degeneration, age-related, 11:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 54 611953
Disease Ontology 12 DOID:0110023
MedGen 40 C2677774
MeSH 42 D008268
SNOMED-CT via HPO 65 267718000

Summaries for Macular Degeneration, Age-Related, 11

UniProtKB/Swiss-Prot : 71 Macular degeneration, age-related, 11: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

MalaCards based summary : Macular Degeneration, Age-Related, 11, is also known as armd11, and has symptoms including age-related macular degeneration An important gene associated with Macular Degeneration, Age-Related, 11 is CST3 (Cystatin C). The drugs Ranibizumab and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.

Description from OMIM: 611953

Related Diseases for Macular Degeneration, Age-Related, 11

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 11

Clinical features from OMIM:

611953

Human phenotypes related to Macular Degeneration, Age-Related, 11:

32
id Description HPO Frequency HPO Source Accession
1 age-related macular degeneration 32 HP:0007868

Drugs & Therapeutics for Macular Degeneration, Age-Related, 11

Drugs for Macular Degeneration, Age-Related, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
2
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
3
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
4
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 1 216974-75-3
5
Verteporfin Approved, Investigational Phase 4,Phase 2 129497-78-5
6 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
7 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
8 diuretics Phase 4,Phase 2,Phase 3
9 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
10 Hormone Antagonists Phase 4,Phase 2,Phase 3
11 Hormones Phase 4,Phase 2,Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
13 Mineralocorticoid Receptor Antagonists Phase 4,Phase 2,Phase 3
14 Mineralocorticoids Phase 4,Phase 2,Phase 3
15 Natriuretic Agents Phase 4,Phase 2,Phase 3
16 Pharmaceutical Solutions Phase 4
17 Antibodies Phase 4,Phase 1
18 Antibodies, Monoclonal Phase 4,Phase 1
19 Immunoglobulins Phase 4,Phase 1
20 Anesthetics Phase 4
21
Sulfamethazine Approved, Vet_approved Phase 3 57-68-1 5327
22
Alprostadil Approved, Investigational Phase 3 745-65-3 149351
23 Endothelial Growth Factors Phase 3
24 Mitogens Phase 3
25 Platelet Aggregation Inhibitors Phase 3
26 Vasodilator Agents Phase 3
27
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
30
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
31 Anti-Bacterial Agents Phase 1, Phase 2
32 Antibiotics, Antitubercular Phase 1, Phase 2
33 Anti-Infective Agents Phase 1, Phase 2
34 Antifungal Agents Phase 1, Phase 2
35 Immunosuppressive Agents Phase 1, Phase 2
36 Dermatologic Agents Phase 2,Phase 1
37 Photosensitizing Agents Phase 2,Phase 1
38
Coal tar Approved Phase 1 8007-45-2
39 Talaporfin Investigational Phase 1 110230-98-3
40
Hydroxychloroquine Approved 118-42-3 3652
41 Povidone-iodine Approved 25655-41-8
42
Copper Approved 7440-50-8 27099
43
Zinc Approved 7440-66-6 32051 23994
44 Tocopherol Approved, Nutraceutical
45
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
46
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
47 Antimalarials
48 Antiparasitic Agents
49 Antiprotozoal Agents
50 Antirheumatic Agents

Interventional clinical trials:

(show all 49)

id Name Status NCT ID Phase Drugs
1 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
2 Wet AMD Recurrence Rate in Patients Stable on Three Month Ranibizumab Dosing Completed NCT01453920 Phase 4 Ranibizumab;Ranibizumab
3 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
4 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Recruiting NCT02810808 Phase 4 Ranibizumab
5 Photodynamic Therapy Versus Eplerenone: Treatment Trial for Chronic Central Serous Chorioretinopathy Recruiting NCT03079141 Phase 4 Eplerenone
6 Strategies for Management of Corneal Neovascularisation Not yet recruiting NCT02594423 Phase 4 Bevacizumab
7 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
8 SUSTAIN - Study of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00331864 Phase 3 Ranibizumab
9 Randomized Study for Efficacy and Safety of Ranibizumab 0.5mg in Treat-extend and Monthly Regimens in Patients With nAMD Completed NCT01948830 Phase 3 Ranibizumab 0.5mg;Ranibizumab 0.5mg
10 A Randomized, Double-masked, Multicenter,Sham-controlled, Safety and Efficacy Study of KH902 in Patients With Wet AMD Completed NCT01436864 Phase 3
11 A Study to Compare SB11 (Proposed Ranibizumab Biosimilar) to Lucentis in Subjects With Neovascular Age-related Macular Degeneration (AMD) Not yet recruiting NCT03150589 Phase 3 SB11 (Proposed ranibizumab biosimilar);Lucentis (ranibizumab)
12 Alprostadil in Maculopathy Study (AIMS) Terminated NCT00619229 Phase 3 Alprostadil (prostaglandin E1)
13 Efficacy and Safety of Lucentis® Use in Patients With Diabetic Macular Edema Evaluating a Spaced Out Follow-up After Intensive Treatment Phase Terminated NCT02032173 Phase 3 Main group
14 Intravitreal Bevacizumab Combined With PDT Versus Bevacizumab to Treat Exudative AMD Unknown status NCT00684853 Phase 2 bevacizumab;vetaporfin
15 Sirolimus for Advanced Age-Related Macular Degeneration Completed NCT01445548 Phase 1, Phase 2 Sirolimus
16 Efficacy and Safety Study of Lucentis (Ranibizumab) and Visudyne (Verteporfin) Combination Therapy in Neovascular AMD Completed NCT00574093 Phase 2 Ranibizumab; Verteporfin
17 Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral GA Associated With AMD Completed NCT00766649 Phase 1, Phase 2 Sirolimus
18 Safety and Efficacy Study of rAAV.sFlt-1 in Patients With Exudative Age-Related Macular Degeneration Completed NCT01494805 Phase 1, Phase 2
19 Safety and Efficacy of Ranibizumab in Japanese Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00284089 Phase 1, Phase 2 Ranibizumab
20 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2 Minocycline
21 BioCurrent Electrical Stimulation for the Treatment of Dry ARMD Recruiting NCT02699216 Phase 1, Phase 2
22 A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration Enrolling by invitation NCT01736592 Phase 1, Phase 2 SAR422459
23 Safety and Preliminary Efficacy Study of WST11 (Stakel®)-Mediated VTP Therapy in Subjects With CNV Associated With AMD Terminated NCT01021956 Phase 2 STAKEL
24 Efficacy, Safety And Tolerability Study Of RN6G In Subjects With Geographic Atrophy Secondary to Age-related Macular Degeneration Terminated NCT01577381 Phase 2
25 Safety & Tolerability of the IRay System in Subjects With Exudative Choroidal Neovascularization (CNV) Secondary to Age-Related Macular Degeneration (AMD) Unknown status NCT01217762 Phase 1
26 Study of AdGVPEDF.11D in Neovascular Age-related Macular Degeneration (AMD) Completed NCT00109499 Phase 1 AdGVPEDF.11D
27 Palomid 529 in Patients With Neovascular Age-Related Macular Degeneration Completed NCT01271270 Phase 1 Palomid 529
28 Efalizumab to Treat Uveitis Completed NCT00280826 Phase 1 Efalizumab
29 Intravitreal Aflibercept Injection for Radiation Retinopathy Active, not recruiting NCT01579760 Phase 1 Aflibercept every 2 months;Aflibercept monthly
30 A Follow-up Study to Evaluate the Safety of RetinoStat® in Patients With Age-Related Macular Degeneration Enrolling by invitation NCT01678872 Phase 1 RetinoStat
31 Study of Talaporfin Sodium Photodynamic Therapy to Treat Advanced Age Related Macular Disease Terminated NCT00102115 Phase 1 Talaporfin Sodium (LS11) Photodynamic Therapy (PDT)
32 Study of Efalizumab Combined With Intravitreal Ranibizumab in the Treatment of Age-Related Macular Degeneration Withdrawn NCT00726466 Phase 1 Efalizumab, Ranibizumab
33 Combined aPproach to Treatment Using Ranibizumab and Efalizumab for Diabetic Macular Edema Study: The CAPTURE DME Study Withdrawn NCT00676559 Phase 1 Efalizumab;Ranibizumab
34 Plaqenil Role in Prevention of Age Related Macular Degeneration Unknown status NCT01541449
35 A Research Study to Evaluate the Effects of Repeated Intravitreal Injections on Bacteria Around the Eye Unknown status NCT01531842
36 Living Successfully With Chronic Eye Diseases Unknown status NCT01879501
37 Addition of 20mg/Day Zeaxanthin to Triple Therapy Treatment Options for Age Related Macular Degeneration (ARMD) Completed NCT01527435
38 Reading Performance With a Video Magnifier Completed NCT01670643
39 Caregiver Burden of Wet Age-related Macular Degeneration (wAMD) in Japan Completed NCT02541084 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
40 Drusen Morphology Changes in Nonexudative Age-related Degeneration After Oral Antioxidants Supplementation Completed NCT02264938
41 Lutein Bioavailability From Fresh and Dried Beverages Completed NCT01400763
42 Comparison of Changes of Inflammatory Proteins in Aqueous Humour of Subjects Treated With Avastin vs Lucentis Completed NCT01760746
43 Genetic Testing for Type 2 Diabetes Completed NCT01060540
44 Study of Dark Adaptation in Age-Related Macular Degeneration Recruiting NCT01352975
45 Natural History of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02941263
46 GARM II: A Study on the Genetics of Age-related Maculopathy Recruiting NCT01115387
47 Cell Collection to Study Eye Diseases Recruiting NCT01432847
48 A Study of Disease Progression in Participants With Geographic Atrophy Secondary to Age-Related Macular Degeneration Active, not recruiting NCT02399072
49 Dark Adaptation in Participants With Age-Related Macular Degeneration Enrolling by invitation NCT03225131

Search NIH Clinical Center for Macular Degeneration, Age-Related, 11

Genetic Tests for Macular Degeneration, Age-Related, 11

Genetic tests related to Macular Degeneration, Age-Related, 11:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 11 29

Anatomical Context for Macular Degeneration, Age-Related, 11

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 11:

39
Eye, Testes, Endothelial

Publications for Macular Degeneration, Age-Related, 11

Variations for Macular Degeneration, Age-Related, 11

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 11:

71
id Symbol AA change Variation ID SNP ID
1 CST3 p.Ala25Thr VAR_011893 rs1064039

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 11:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CST3 NM_000099.3(CST3): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs1064039 GRCh37 Chromosome 20, 23618427: 23618427

Expression for Macular Degeneration, Age-Related, 11

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 11.

Pathways for Macular Degeneration, Age-Related, 11

GO Terms for Macular Degeneration, Age-Related, 11

Sources for Macular Degeneration, Age-Related, 11

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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