ARMD4
MCID: MCL038
MIFTS: 26

Macular Degeneration, Age-Related, 4 (ARMD4) malady

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

Aliases & Classifications for Macular Degeneration, Age-Related, 4

Aliases & Descriptions for Macular Degeneration, Age-Related, 4:

Name: Macular Degeneration, Age-Related, 4 54 66 13 69
Armd4 12 24 66
Age-Related Macular Degeneration 4 24 29
Age Related Macular Degeneration 4 12

Characteristics:

HPO:

32
macular degeneration, age-related, 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 54 610698
Disease Ontology 12 DOID:0110017
MedGen 40 C1853147
MeSH 42 D008268

Summaries for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot : 66 Macular degeneration, age-related, 4: 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, 4, also known as armd4, is related to macular degeneration, age-related, 1, and has symptoms including age-related macular degeneration An important gene associated with Macular Degeneration, Age-Related, 4 is CFH (Complement Factor H). The drugs Bevacizumab and Ranibizumab 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 CFH gene on chromosome 1q31.

Description from OMIM: 610698

Related Diseases for Macular Degeneration, Age-Related, 4

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 4

Clinical features from OMIM:

610698

Human phenotypes related to Macular Degeneration, Age-Related, 4:

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

Drugs & Therapeutics for Macular Degeneration, Age-Related, 4

Drugs for Macular Degeneration, Age-Related, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 269)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
2
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 347396-82-1 459903
3
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129497-78-5
4
Ephedrine Approved Phase 4,Phase 2 299-42-3 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 90-82-4 7028
10
Dorzolamide Approved Phase 4,Phase 2 120279-96-1 3154 5284549
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
13
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
14
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
15
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
16
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
17
Menthol Approved Phase 4 2216-51-5 16666
18
Temazepam Approved Phase 4 846-50-4 5391
19
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
20
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
21
Zinc Approved Phase 4 7440-66-6 32051 23994
22
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 1 67-73-2 6215
23
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
25
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
26
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
27
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
28
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
29
Timolol Approved Phase 4,Phase 2 26839-75-8 33624 5478
30
Travoprost Approved Phase 4 157283-68-6 5282226
31
Benzocaine Approved Phase 4,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
32
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
33
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
34
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
35
Empagliflozin Approved Phase 4 864070-44-0
36
Glimepiride Approved Phase 4 93479-97-1 3476
37
Difluprednate Approved Phase 4 23674-86-4 443936
38
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
40
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
41
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-02-9 14985
42 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 1
43
Lutein Approved, Nutraceutical Phase 4,Phase 1 127-40-2 6433159 5368396
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 54575, 6560146 143
46
Bromfenac Approved July 1997 Phase 4,Phase 2 91714-94-2 60726
47
Maleic acid Experimental Phase 4 110-16-7 444266
48 Endothelial Growth Factors Phase 4,Phase 3,Phase 2,Phase 1
49 Mitogens Phase 4,Phase 3,Phase 2,Phase 1
50 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 521)
id Name Status NCT ID Phase
1 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
2 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 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 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4
6 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4
7 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4
8 The Endurance 1 Trial Unknown status NCT02297204 Phase 4
9 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
10 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
11 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
12 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4
13 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
14 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4
15 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4
16 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4
17 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4
18 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
19 Photodynamic Therapy in Occult-Only Lesions (POOL) Completed NCT00135837 Phase 4
20 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4
21 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
22 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
23 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
24 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4
25 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
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 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
28 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
29 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4
30 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
31 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
32 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4
33 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4
34 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4
35 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4
36 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4
37 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
38 Indocyanine Angiographic Changes of Choroidal Neovascularization by Ranibizumab Completed NCT01810042 Phase 4
39 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
40 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
41 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4
42 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
43 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4
44 Macular EpiRetinal Brachytherapy Versus Lucentis® Only Treatment (MERLOT) Completed NCT01006538 Phase 4
45 Wet AMD Recurrence Rate in Patients Stable on Three Month Ranibizumab Dosing Completed NCT01453920 Phase 4
46 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4
47 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
48 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
49 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
50 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4

Search NIH Clinical Center for Macular Degeneration, Age-Related, 4

Genetic Tests for Macular Degeneration, Age-Related, 4

Genetic tests related to Macular Degeneration, Age-Related, 4:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 4 29 24 CFH

Anatomical Context for Macular Degeneration, Age-Related, 4

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 4:

39
Eye

Publications for Macular Degeneration, Age-Related, 4

Variations for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 4:

66
id Symbol AA change Variation ID SNP ID
1 CFH p.Arg1210Cys VAR_025885

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.1204C= (p.His402=) single nucleotide variant Pathogenic,risk factor rs1061170 GRCh37 Chromosome 1, 196659237: 196659237
2 CFH NM_000186.3(CFH): c.1419G> C (p.Ala473=) single nucleotide variant risk factor rs2274700 GRCh37 Chromosome 1, 196682947: 196682947
3 CFH NM_000186.3(CFH): c.2237-543G= single nucleotide variant risk factor rs1410996 GRCh37 Chromosome 1, 196696933: 196696933
4 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
5 CFH NM_000186.3(CFH): c.1507C> G (p.Pro503Ala) single nucleotide variant risk factor rs570523689 GRCh38 Chromosome 1, 196713905: 196713905

Expression for Macular Degeneration, Age-Related, 4

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 4.

Pathways for Macular Degeneration, Age-Related, 4

GO Terms for Macular Degeneration, Age-Related, 4

Sources for Macular Degeneration, Age-Related, 4

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