ARMD2
MCID: MCL043
MIFTS: 32

Macular Degeneration, Age-Related, 2 (ARMD2) malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases, Skin diseases

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

Aliases & Descriptions for Macular Degeneration, Age-Related, 2:

Name: Macular Degeneration, Age-Related, 2 54 66 13 69
Armd2 12 24 66
Age-Related Macular Degeneration 2 24 29
Age Related Macular Degeneration 2 12

Characteristics:

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

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 66 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, also known as armd2, is related to macular degeneration, age-related, 1 and diamond-blackfan anemia 6, 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.

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 by clinical synopsis from OMIM:

153800

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 386)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 3,Phase 2,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
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
4
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
5
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
6
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
7
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
8
Norgestimate Approved Phase 4 35189-28-7 6540478
9
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
10
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
13
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
14
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
15
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
16
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
17
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
18
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 67-73-2 6215
19
Menthol Approved Phase 4 2216-51-5 16666
20
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
21
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
22
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
23
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
24
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
26
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
27
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
28
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
29
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
30
Empagliflozin Approved Phase 4 864070-44-0
31
Glimepiride Approved Phase 4 93479-97-1 3476
32
Difluprednate Approved Phase 4 23674-86-4 443936
33
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
35
Lutein Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 127-40-2 6433159 5368396
36
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
37 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
38
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2 91714-94-2 60726
39 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Endothelial Growth Factors Phase 4,Phase 3,Phase 2,Phase 1
44 Mitogens Phase 4,Phase 3,Phase 2,Phase 1
45 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
46 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
47 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Contraceptive Agents Phase 4
50 Contraceptives, Oral Phase 4

Interventional clinical trials:

(show top 50) (show all 1195)
id Name Status NCT ID Phase
1 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4
2 Study to Evaluate Efficacy of Aflibercept in Neovascular Age-related Macular Degeneration Patients Non Responders to Anti-Vascular Endothelial Growth Factor Unknown status NCT01896284 Phase 4
3 A Clinical Trial to Explore the Safety and Efficacy of Injections of Macugen When Given Every 6 Weeks in Subjects With AMD Unknown status NCT00354445 Phase 4
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
5 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4
6 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4
7 The Endurance 1 Trial Unknown status NCT02297204 Phase 4
8 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
9 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
10 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
11 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
12 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4
13 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
14 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
15 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
16 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4
17 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4
18 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
19 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4
20 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
21 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4
22 Indocyanine Angiographic Changes of Choroidal Neovascularization by Ranibizumab Completed NCT01810042 Phase 4
23 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
24 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
25 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
26 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
27 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
28 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
29 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4
30 Photodynamic Therapy in Occult-Only Lesions (POOL) Completed NCT00135837 Phase 4
31 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4
32 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4
33 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4
34 Wet AMD Recurrence Rate in Patients Stable on Three Month Ranibizumab Dosing Completed NCT01453920 Phase 4
35 Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With nAMD (Age Related Macular Degeneration) Completed NCT01775124 Phase 4
36 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4
37 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
38 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4
39 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
40 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
41 Macular EpiRetinal Brachytherapy Versus Lucentis® Only Treatment (MERLOT) Completed NCT01006538 Phase 4
42 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
43 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4
44 Efficacy and Safety of Lucentis® (Ranibizumab Intravitreal Injections) in Chilean Patients With Diabetic Macular Edema. Completed NCT02140411 Phase 4
45 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4
46 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4
47 Visual Outcome in Patients With Symptomatic Macular PCV Treated With Either Ranibizumab as Monotherapy or Combined With Verteporfin Photodynamic Therapy. Completed NCT01846273 Phase 4
48 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4
49 Evaluation of Dosing Interval of Higher Doses of Ranibizumab Completed NCT00533520 Phase 4
50 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4

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

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:

66 (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,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
2 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
3 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

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7 CNVD
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10 dbSNP
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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