MCID: MCL043
MIFTS: 31

Macular Degeneration, Age-Related, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 2

MalaCards integrated aliases for Macular Degeneration, Age-Related, 2:

Name: Macular Degeneration, Age-Related, 2 54 71 13 69
Armd2 12 24 71
Age-Related Macular Degeneration 2 24 29
Age Related Macular Degeneration 2 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
macular degeneration, age-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 153800
Disease Ontology 12 DOID:0110015
MeSH 42 D008268
SNOMED-CT via HPO 65 263681008 267718000

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 71 Macular degeneration, age-related, 2: 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, 2, is also known as armd2, and has symptoms including age-related macular degeneration An important gene associated with Macular Degeneration, Age-Related, 2 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs Ranibizumab and Verteporfin have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.

Description from OMIM: 153800

Related Diseases for Macular Degeneration, Age-Related, 2

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 2

Symptoms via clinical synopsis from OMIM:

54

Eyes:
senile macular degeneration
visual disturbance may precede ophthalmoscopic findings


Clinical features from OMIM:

153800

Human phenotypes related to Macular Degeneration, Age-Related, 2:

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

Drugs & Therapeutics for Macular Degeneration, Age-Related, 2

Drugs for Macular Degeneration, Age-Related, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 324)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 347396-82-1 459903
2
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
3
Ephedrine Approved Phase 4,Phase 2 299-42-3 9294
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Norgestimate Approved Phase 4 35189-28-7 6540478
8
Pseudoephedrine Approved Phase 4,Phase 2 90-82-4 7028
9
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
12
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
13
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
14
Temazepam Approved Phase 4 846-50-4 5391
15
Copper Approved Phase 4 7440-50-8 27099
16
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
17
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
20
Empagliflozin Approved Phase 4 864070-44-0
21
Glimepiride Approved Phase 4 93479-97-1 3476
22
Theobromine Approved Phase 4 83-67-0 5429
23 Tocopherol Approved, Nutraceutical Phase 4,Phase 3
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 11103-57-4, 68-26-8 445354
25
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-02-9 14985
27
Lactitol Investigational Phase 4,Phase 2 585-86-4 3871
28
Bromfenac Approved July 1997 Phase 4,Phase 2 91714-94-2 60726
29 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
30 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
31 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
35 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Contraceptive Agents Phase 4
38 Contraceptives, Oral Phase 4
39 Contraceptives, Oral, Combined Phase 4
40 Estradiol 17 beta-cypionate Phase 4
41 Estradiol 3-benzoate Phase 4
42 Estradiol valerate Phase 4 979-32-8
43 Fluoroquinolones Phase 4
44 Nasal Decongestants Phase 4,Phase 2
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46 Nucleic Acid Synthesis Inhibitors Phase 4
47 Ophthalmic Solutions Phase 4,Phase 2,Phase 3,Phase 1
48 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
50 Polyestradiol phosphate Phase 4

Interventional clinical trials:

(show top 50) (show all 631)

id Name Status NCT ID Phase Drugs
1 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
2 Short-term Clinical Effects of Intravitreal Aflibercept Injection 2.0mg as a Predictor of Long-term Results Unknown status NCT01657669 Phase 4 Intravitreal Aflibercept injection
3 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
4 On-label tReatment With Intravitreal Aflibercept injectiOn for Patients With Persistent Pigment epitheliaL Detachments in Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT01670162 Phase 4 Aflibercept
5 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
6 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
7 Multicenter Study to Evaluate the Efficacy of Treat and Extend Regimen of Aflibercept (EYLEA) as a Second Line Treatment for Diabetic Macular Edema Unknown status NCT02633852 Phase 4 Aflibercept
8 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
9 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
10 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
11 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
12 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
13 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4 Ranibizumab
14 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
15 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab
16 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4 Ranibizumab;Bevacizumab
17 Safety and Tolerability of Ranibizumab in Mono/Bilateral w-AMD Patients in Eyes With BCVA<2/10 and/or 2nd Affected Eye Completed NCT01986907 Phase 4 ranibizumab
18 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
19 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
20 Evaluation of Dosing Interval of Higher Doses of Ranibizumab Completed NCT00533520 Phase 4 ranibizumab
21 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4 Ranibizumab;Verteporfin;Verteporfin
22 Efficacy of Ranibizumab Prn Treatment Compared to Aflibercept Bimonthly Intravitreal Injections on Retinal Thickness Stability in Patients With Wet AMD Completed NCT01958918 Phase 4 Ranibizumab;Aflibercept
23 Comparison of Safety, Effectiveness and Quality of Life Outcomes Between Labeled Versus "Treat and Extend" Regimen in Turkish Patients With Choroidal Neovascularisation Due to Age-related Macular Degeneration (AMD) Completed NCT01148511 Phase 4 Ranibizumab 0.5 mg
24 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
25 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
26 UNcovering the Difference Between Ranibizumab and Aflibercept, Focusing on Systemic Anti-vascular Endothelial Growth Factor (VEGF) Effects in Patients With neovascuLar Age-related Macular Degeneration (AMD) Completed NCT01988662 Phase 4
27 Study to Assess Best Corrected Visual Acuity (BCVA) in Patients With Neovascular Age-Related Macular Degeneration (AMD) Who Are Administered VEGF Trap-Eye (Intravitreal Aflibercept Injection) Completed NCT01722045 Phase 4 Intravitreal Aflibercept Injection (IAI)
28 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
29 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
30 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
31 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
32 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
33 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4 vitamin and mineral supplement;Escherichia coli Endotoxin (LPS);100% O2;nitroglycerin
34 Study to Investigate the Safety and Efficacy of Ranibizumab in Patients With Choroidal Neovascularisation Due to Causes Other Than Age Related Macular Degeneration Completed NCT01628354 Phase 4 Ranibizumab
35 Prospective Randomized Controlled Treatment Trial for Chronic Central Serous Chorioretinopathy Completed NCT01797861 Phase 4
36 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4 aflibercept
37 Visual Outcome in Patients With Symptomatic Macular PCV Treated With Either Ranibizumab as Monotherapy or Combined With Verteporfin Photodynamic Therapy. Completed NCT01846273 Phase 4 Ranibizumab;Verteporfin PDT;Sham PDT
38 Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment. Completed NCT01972789 Phase 4 Ranibizumab
39 Bromfenac BID Plus Prednisolone Acetate BID Versus Bromfenac BID Plus Prednisolone QID for the Prevention of Cystoid Macular Edema and Retinal Thickening Completed NCT00469781 Phase 4 2. Xibrom (Bromfenac);1. Pred Forte
40 NEWTON: Aflibercept Injection for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
41 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
42 Investigation of the Change of Vision-related Quality of Life in Subjects Treated With Aflibercept According to EU Label for DME. Completed NCT02581995 Phase 4 Eylea (Aflibercept, VEGF Trap-Eye, BAY86-5321)
43 Randomized, Double Blind Trial of Bromfenac BID (0.09%) as an Adjunct to Argon Laser Therapy in the Treatment of Diabetic Macular Edema. Completed NCT00758628 Phase 4 Bromefenac;Blink
44 Intravitreal Aflibercept in Wet Age Related Macular Degeneration Patients With an Incomplete Response to Routine Ranibizumab Injections Recruiting NCT02002377 Phase 4 Aflibercept
45 Managing Neovascular (Known as "Wet") Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye Recruiting NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
46 Systemic VEGF Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Recruiting NCT02257632 Phase 4 Ranibizumab;Aflibercept
47 An Open Label-study to Compare the Efficacy of Aflibercept Monotherapy for Polypoidal Choroidal Vasculopathy Using a Modified Intensive Treat and Extend Regime to a Fixed Dosing Regimen Recruiting NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
48 Intravitreal Vascular Endothelial Growth Factor Trap-eye for Submacular Hemorrhage Recruiting NCT03169660 Phase 4 Vascular endothelial growth factor trap-eye
49 The IAI-OCTA Study; a Study of OCT-Angiography Analysis Efficacy Recruiting NCT03022292 Phase 4 Aflibercept Ophthalmic
50 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Recruiting NCT02689518 Phase 4 Intravitreal aflibercept injection

Search NIH Clinical Center for Macular Degeneration, Age-Related, 2

Genetic Tests for Macular Degeneration, Age-Related, 2

Genetic tests related to Macular Degeneration, Age-Related, 2:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 2 29 24 ABCA4

Anatomical Context for Macular Degeneration, Age-Related, 2

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 2:

39
Eye, Endothelial, Testes, Bone

Publications for Macular Degeneration, Age-Related, 2

Variations for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 2:

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 ABCA4 p.Glu471Lys VAR_008413 rs1800548
2 ABCA4 p.Gly818Glu VAR_008422 rs61750202
3 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
4 ABCA4 p.Thr1428Met VAR_008447 rs1800549
5 ABCA4 p.Arg1517Ser VAR_008455 rs1800550
6 ABCA4 p.Ile1562Thr VAR_008458 rs1762111
7 ABCA4 p.Gly1578Arg VAR_008459 rs1800551
8 ABCA4 p.Arg1898His VAR_008473 rs1800552
9 ABCA4 p.Leu1970Phe VAR_008476 rs28938473
10 ABCA4 p.Gly1977Ser VAR_008477 rs61750639
11 ABCA4 p.Ala762Glu VAR_067427
12 ABCA4 p.Trp1724Cys VAR_067428
13 ABCA4 p.Ile2047Asn VAR_067429
14 ABCA4 p.Cys2137Tyr VAR_067430

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
2 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
3 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
4 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895

Expression for Macular Degeneration, Age-Related, 2

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 2.

Pathways for Macular Degeneration, Age-Related, 2

GO Terms for Macular Degeneration, Age-Related, 2

Sources for Macular Degeneration, Age-Related, 2

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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