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MCID: MCL042
MIFTS: 84

Macular Degeneration, Age-Related, 1

Categories: Genetic diseases, Rare diseases, Eye diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Macular Degeneration, Age-Related, 1

About this section

MalaCards integrated aliases for Macular Degeneration, Age-Related, 1:

Name: Macular Degeneration, Age-Related, 1 57 75 38 73
Macular Degeneration 41 12 76 53 29 6 43 44 15 73
Age-Related Macular Degeneration 12 53 25 37 29 6 63
Age Related Macular Degeneration 41 38 12 15 73
Macular Degeneration, Age-Related 57 76 25 40
Armd1 57 12 75
Age Related Macular Degeneration 1 12 15
Age-Related Macular Degeneration 1 29 6
Age-Related Maculopathy 53 25
Amd 53 25
Macular Degeneration, Age-Related, 1, Susceptibility to 6
Macular Degeneration, Age-Related, Reduced Risk of 57
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, Type 1 40
Macular Degeneration, Age-Related, 2 73
Senile Macular Retinal Degeneration 12
Macular Degeneration of Retina 12
Maculopathy, Age-Related, 1 57
Senile Macular Degeneration 12
Age Related Maculopathy 1 12
Age Related Maculopathies 12
Wet Macular Degeneration 44
Age Related Maculopathy 12
Maculopathy Age-Related 55
Armd 25
Arm 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
earliest symptom onset in sixth decade of life
diagnosis in seventh decade of life


HPO:

32
macular degeneration, age-related, 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Macular Degeneration, Age-Related, 1

About this section
MedlinePlus : 43 Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to kuhnt-junius degeneration and macular degeneration, age-related, 5, and has symptoms including vision loss, angina pectoris and tremor. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (Hemicentin 1), and among its related pathways/superpathways are Creation of C4 and C2 activators and Immune response Lectin induced complement pathway. The drugs Bevacizumab and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are progressive visual loss and foveal hypopigmentation

Disease Ontology : 12 A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has symptom vision loss.

Genetics Home Reference : 25 Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.

NIH Rare Diseases : 53 Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition.

OMIM : 57 Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). (603075)

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 1: 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.

PubMed Health : 63 About age-related macular degeneration: It’s normal for our vision to gradually get worse with age. Some people also have medical conditions that further affect their vision or may even lead to blindness. One possible cause of worsening vision is age-related macular degeneration (AMD).AMD is a chronic condition that usually affects both eyes and is brought about by a metabolic disorder. It develops in the macula, the part of the eye that is especially important for seeing sharp images. But vision loss usually only occurs in more advanced stages of AMD. There are two types of AMD: “dry” and “wet.” Wet AMD causes vision loss more quickly. Neither can be cured. But treatment for wet AMD can help to keep and sometimes even improve vision, or at least slow down the progression of the disease.

Wikipedia : 76 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Sources

Related Diseases for Macular Degeneration, Age-Related, 1

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Diseases in the Macular Degeneration, Early-Onset family:

Macular Degeneration, Age-Related, 2 Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 4
Macular Degeneration, Age-Related, 9 Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11 Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 5 Macular Degeneration, Age-Related, 8
Macular Degeneration, Age-Related, 12 Macular Degeneration, Age-Related, 13
Macular Degeneration, Age-Related, 14 Macular Degeneration, Age-Related, 15

Diseases related to Macular Degeneration, Age-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 34.0 ARMS2 CFB CFH VEGFA VEGFB
2 macular degeneration, age-related, 5 12.7
3 macular degeneration, age-related, 15 12.7
4 macular degeneration, age-related, 2 12.7
5 macular degeneration, age-related, 7 12.7
6 macular degeneration, age-related, 9 12.7
7 macular degeneration, age-related, 12 12.7
8 macular degeneration, age-related, 13 12.7
9 macular degeneration, age-related, 4 12.6
10 macular degeneration, age-related, 10 12.6
11 macular degeneration, age-related, 6 12.6
12 macular degeneration, age-related, 8 12.6
13 macular degeneration, age-related, 14 12.6
14 macular degeneration, age-related, 11 12.6
15 neuropathy, hereditary, with or without age-related macular degeneration 12.1
16 glycogen storage disease ii 11.8
17 c3 glomerulopathy 11.2 CFB CFHR1 CFHR3
18 familial drusen 11.1 CFH EFEMP1
19 basal laminar drusen 11.1 CFH FBLN5 HMCN1
20 hemolytic uremic syndrome, atypical 1 11.1 CFH CFHR1 CFHR3
21 multifocal choroiditis 11.1 ARMS2 CFB CFH
22 stargardt macular degeneration 11.1 ABCA4 ELOVL4
23 yemenite deaf-blind hypopigmentation syndrome 11.1 ABCA4 CFH VEGFA
24 choroiditis 11.1 ARMS2 CFB CFH
25 hemolytic-uremic syndrome 11.1 CFB CFH CFHR1 CFHR3
26 vitreous detachment 11.1 OPTC VEGFA
27 central serous chorioretinopathy 11.1 ARMS2 CFH
28 complement factor h deficiency 11.0 CFH CFHR1
29 dense deposit disease 11.0 CFB CFH
30 retinal drusen 11.0 ARMS2 CFB CFH EFEMP1 FBLN5
31 peripheral retinal degeneration 10.9 BEST1 TIMP3
32 stargardt disease 1 10.9
33 adrenomyodystrophy 10.9
34 langerhans cell histiocytosis 10.9
35 fundus dystrophy 10.9 ABCA4 BBS10 BEST1 CNGA3 EFEMP1 ELOVL4
36 retinal disease 10.9 ABCA4 ARMS2 BEST1 CFB CFH CNGA3
37 macular dystrophy, dominant cystoid 10.9 BEST1 VEGFA
38 leber congenital amaurosis 10.8 ABCA4 BEST1 CNGA3 ELOVL4
39 doyne honeycomb retinal dystrophy 10.7 EFEMP1 ELOVL4
40 degeneration of macula and posterior pole 10.7 ABCA4 ARMS2 CFB CFH CFHR1 CFHR3
41 retinitis pigmentosa 10.5 ABCA4 BBS10 BEST1 CNGA3 ELOVL4 TIMP3
42 enterocolitis 10.4 CFB CFH
43 aging 10.1

Comorbidity relations with Macular Degeneration, Age-Related, 1 via Phenotypic Disease Network (PDN): (show all 11)


Acute Cystitis Brain Small Vessel Disease with or Without Ocular Anomalies
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypertension, Essential
Hypothyroidism Ischemic Heart Disease
Osteoporosis Schizophreniform Disorder
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 1:



Diseases related to Macular Degeneration, Age-Related, 1
Sources

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
choroidal neovascularization (in some patients)
progressive vision loss
foveal hypopigmentation (in presymptomatic younger patients)
macular hemorrhage (in some patients)
large, soft, confluent drusen (in some patients)
more

Clinical features from OMIM:

603075

Symptoms:

12
  • • vision loss

Human phenotypes related to Macular Degeneration, Age-Related, 1:

32
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 foveal hypopigmentation 32 HP:0012643

UMLS symptoms related to Macular Degeneration, Age-Related, 1:


angina pectoris, tremor, equilibration disorder

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00207-A-2 8.8 CFHR1 FBLN5
2 Decreased viability with paclitaxel GR00207-A-3 8.8 CFHR1

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 BBS10 CFB CFH EFEMP1 ELOVL4 FBLN5
2 cardiovascular system MP:0005385 10.07 ABCA4 APOE CFH EFEMP1 FBLN5 OPTC
3 pigmentation MP:0001186 9.8 ABCA4 APOE BEST1 CFH EFEMP1 ELOVL4
4 renal/urinary system MP:0005367 9.7 APOE BBS10 CFB CFH EFEMP1 TIMP3
5 reproductive system MP:0005389 9.56 APOE BEST1 CFB EFEMP1 ELOVL4 PLEKHA1
6 vision/eye MP:0005391 9.4 VEGFA VEGFB ABCA4 APOE BBS10 BEST1
Sources

Drugs & Therapeutics for Macular Degeneration, Age-Related, 1

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PubMedHealth treatment related to Macular Degeneration, Age-Related, 1: 63

There is currently no effective treatment for dry macular degeneration.Wet AMD is typically treated with medicine that is injected into the eye to prevent blood vessel growth. This medicine is known as anti-vascular endothelial growth factor (anti-VEGF). Although this treatment can’t cure AMD, it can stop or at least slow down the progression. Sometimes vision even improves again during treatment.Photodynamic therapy is less effective, and therefore no longer that common. Laser therapy is also only rarely used nowadays. This treatment involves heating and destroying abnormal blood vessels with laser beams. Photodynamic therapy applies a combination of medication and laser beams. Both of these therapies are only very rarely suitable for treating wet AMD. They also have more side effects than anti-VEGF therapy.In some exceptional cases – and if no other treatment has helped – abnormal blood vessels may be removed surgically.Dietary supplements containing a combination of certain ingredients (vitamin C, vitamin E, zinc, copper, and lutein with zeaxanthin or beta-carotene) may be able to slow the progression of the disease in people who are at greater risk of developing late-stage AMD.

Drugs for Macular Degeneration, Age-Related, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 428)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 216974-75-3
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 347396-82-1 459903
3
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 129497-78-5
4
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 299-42-3 9294
5
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
6 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Not Applicable 979-32-8
7
Ethinyl Estradiol Approved Phase 4,Not Applicable 57-63-6 5991
8
Moxifloxacin Approved, Investigational Phase 4,Not Applicable 354812-41-2, 151096-09-2 152946
9
Norgestimate Approved, Investigational Phase 4,Not Applicable 35189-28-7 6540478
10
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
11
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 90-82-4 7028
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-02-2 5743
13
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
14
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 124-94-7 31307
15
Temazepam Approved, Investigational Phase 4,Phase 3,Not Applicable 846-50-4 5391
16
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
17
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
18
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
19
Povidone-iodine Approved Phase 4,Phase 3,Not Applicable 25655-41-8
20
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
21
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
22
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
23
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 74103-06-3, 66635-83-4 3826
24
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
25
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
26
Copper Approved, Investigational Phase 4,Not Applicable 7440-50-8 27099
27
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
28
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6 23994
29
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
30
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
31
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
32
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
33
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
34
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5282380 5311221
35
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 33624 5478
36
Travoprost Approved Phase 4 157283-68-6 5282226
37
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
38 Homatropine Approved Phase 4 87-00-3
39
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
40
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
41
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
42
Empagliflozin Approved Phase 4 864070-44-0
43
Glimepiride Approved Phase 4 93479-97-1 3476
44
Theobromine Approved, Investigational Phase 4 83-67-0 5429
45
Difluprednate Approved Phase 4 23674-86-4 443936
46
Fluprednisolone Approved Phase 4 53-34-9
47
Tocopherol Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable 1406-66-2 14986
48
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 5785 54670067
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 59-02-9 14985
50
Lutein Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 127-40-2 6433159

Interventional clinical trials:

(show top 50) (show all 1531)
# Name Status NCT ID Phase Drugs
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 0.5mg aflibercept
2 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
3 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
4 PRedictive Factors and Changes From Treatment in Idiopathic Polypoidal Choroidal Vasuclopathy Versus Central Serous Chorioretinopathy Versus Neovascular Age Related Macular Degeneration With afLibercept Unknown status NCT02681783 Phase 4 aflibercept
5 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
6 Treatment of AMD With Rheohemapheresis /RHF/ Unknown status NCT01943396 Phase 4
7 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
8 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
9 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 pegaptanib sodium (Macugen)
10 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
11 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
12 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
13 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
14 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
15 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
16 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
17 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
18 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
19 Predictors of Treatment Response to Aflibercept and Aqueous Cytokine Levels in Patients With Persistent Diabetic Macular Edema Following Treatment With Ranibizumab: An Interventional Prospective Study Unknown status NCT02651168 Phase 4
20 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
21 To Compare Anti-VEGF Monotherapy With Anti-VEGF and EPM Grid Laser Combination Therapy for Diabetic Macular Edema Unknown status NCT02462304 Phase 4 ranibizumab;Bevacizumab
22 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
23 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
24 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
25 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
26 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
27 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
28 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
29 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
30 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
31 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
32 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
33 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
34 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
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 Ranibizumab
36 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
37 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
38 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
39 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
40 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4 pegaptanib sodium (Macugen)
41 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
42 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
43 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab
44 Efficacy of Fixed Monthly Dosing of Ranibizumab in Neovascular Age-related Macular Degeneration Completed NCT02944227 Phase 4 Lucentis
45 A Comparison of Ranibizumab and Aflibercept for the Development of Geographic Atrophy in (Wet) AMD Patients Completed NCT02130024 Phase 4 Ranibizumab;Aflibercept
46 Functional and Structural Outcomes in Neovascular Age-related Macular Degeneration Completed NCT02843490 Phase 4 Ranibizumab
47 Systemic VEGF Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Completed NCT02257632 Phase 4 Ranibizumab;Aflibercept
48 Impact of Home Monitoring to Decrease the Treatment Burden for Neovascular Age-related Macular Degeneration (AMD) Completed NCT01863199 Phase 4 Lucentis (Treat and extend);Lucentis every 4 weeks;Lucentis every 12 weeks
49 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)
50 Single or Combined Protocols for NV-AMD Completed NCT03552770 Phase 4 Bevacizumab

Search NIH Clinical Center for Macular Degeneration, Age-Related, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Macular Degeneration, Age-Related, 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Macular Degeneration, Age-Related, 1:
Bone marrow-derived hematopoietic stem cells for retinopathy
Bone marrow-derived stem cells for retinal diseases
CNTO2476, human umbilical tissue-derived cells for macular degeneration
HuCNS-SC
MA09-hRPE, embryonic retinal pigmented epithelial cells for degenerative macular diseases
OpRegen
Pf-05206388, retinal pigmented epithelial cells for macular degeneration
Renexus
Embryonic/Adult Cultured Cells Related to Macular Degeneration, Age-Related, 1:
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22247454
Bone marrow-derived hematopoietic CD34+ progenitors PMIDs: 22247454
Bone marrow-derived mononuclear cells (family) PMIDs: 23049424 21225138 19347139 23000646
Umbilical tissue-derived cells (CNTO2476) PMIDs: 22450217
Human neural stem cells (HuCNS-SC PMIDs: 16610769
Mature retinal pigmented epithelium cells PMIDs: 19521979 22281388
Retinal pigmented epithelium cells PMIDs: 19796620
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: macular degeneration

Sources

Genetic Tests for Macular Degeneration, Age-Related, 1

About this section

Genetic tests related to Macular Degeneration, Age-Related, 1:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 29
2 Age-Related Macular Degeneration 1 29 APOE CFHR1 CFHR3 HMCN1 PLEKHA1
3 Macular Degeneration 29
Sources

Anatomical Context for Macular Degeneration, Age-Related, 1

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MalaCards organs/tissues related to Macular Degeneration, Age-Related, 1:

41
Eye, Endothelial, Retina, Testes, Bone, Bone Marrow, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Macular Degeneration, Age-Related, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Potential therapeutic candidate, affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Potential therapeutic candidate, affected by disease
3 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Potential therapeutic candidate, affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Potential therapeutic candidate, affected by disease
6 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate
Sources

Publications for Macular Degeneration, Age-Related, 1

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Articles related to Macular Degeneration, Age-Related, 1:

(show top 50) (show all 1694)
# Title Authors Year
1
MACULAR ATROPHY INCIDENCE IN ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR-TREATED NEOVASCULAR AGE-RELATED MACULAR DEGENERATION: Risk Factor Evaluation for Individualized Treatment Need of Ranibizumab or Aflibercept According to an Observe-and-Plan Regimen. ( 29370035 )
2018
2
Association of Retinal Vascular Caliber and Age-Related Macular Degeneration in Patients With the Acquired Immunodeficiency Syndrome. ( 29435590 )
2018
3
CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy. ( 28557591 )
2018
4
Long-term Progression of Type 1 Neovascularization in Age-related Macular Degeneration Using Optical Coherence Tomography Angiography. ( 29269100 )
2018
5
Association of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients. ( 28846052 )
2018
6
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. ( 29145636 )
2018
7
OCT Angiography Helps Distinguish Between Proliferative Macular Telangiectasia Type 2 and Neovascular Age-Related Macular Degeneration. ( 29772040 )
2018
8
Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. ( 29846169 )
2018
9
An efficacy analysis of anti-vascular endothelial growth factor therapy for choroidal neovascularization secondary to multifocal choroiditis and comparison with wet age-related macular degeneration. ( 29616508 )
2018
10
Global prevalence of visual impairment associated with myopic macular degeneration and temporal trends from 2000 through 2050: systematic review, meta-analysis and modelling. ( 29699985 )
2018
11
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene. ( 28859202 )
2017
12
RETICULAR PSEUDODRUSEN ARE NOT A PREDICTIVE FACTOR FOR THE 1-YEAR RESPONSE TO INTRAVITREAL RANIBIZUMAB IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. ( 27380430 )
2017
13
Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population. ( 28470643 )
2017
14
Exploring the association of rs10490924 polymorphism with age-related macular degeneration: An in silico approach. ( 28915445 )
2017
15
Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration. ( 28456421 )
2017
16
The Age-Related Eye Disease 2 Study: Micronutrients in the Treatment of Macular Degeneration. ( 28096126 )
2017
17
CYSTOID MACULAR EDEMA AND CYSTOID MACULAR DEGENERATION AS A RESULT OF MULTIPLE PATHOGENIC FACTORS IN THE SETTING OF CENTRAL SEROUS CHORIORETINOPATHY. ( 27902539 )
2017
18
The Charles Bonnet Syndrome in Patients With Neovascular Age-Related Macular Degeneration: Association With Proton Pump Inhibitors. ( 28829845 )
2017
19
Association of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population. ( 27029644 )
2017
20
Gene therapy for age-related macular degeneration. ( 28726562 )
2017
21
DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium. ( 28334846 )
2017
22
Urinary Isoprostane Levels and Age-Related Macular Degeneration. ( 28492872 )
2017
23
RESOLUTION OF TREATMENT-RESISTANT SUBRETINAL FLUID IN A PATIENT WITH EXUDATIVE AGE-RELATED MACULAR DEGENERATION FOLLOWING ENDOPHTHALMITIS. ( 28925926 )
2017
24
Association of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis. ( 28095100 )
2017
25
Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis. ( 27484132 )
2017
26
Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration. ( 28558370 )
2017
27
Circulating miRNAs as Potential Biomarkers of Age-Related Macular Degeneration. ( 28315863 )
2017
28
Genome surgery using Cas9 ribonucleoproteins for the treatment of age-related macular degeneration. ( 28209587 )
2017
29
Hyperhomocysteinemia and Age-related Macular Degeneration: Role of Inflammatory Mediators and Pyroptosis; A Proposal. ( 28735646 )
2017
30
ARMS2 A69S polymorphism is associated with the number of ranibizumab injections needed for exudative age-related macular degeneration in a pro re nata regimen during 4 years of follow-up. ( 28744656 )
2017
31
Joint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH polymorphisms in age-related macular degeneration. ( 28095095 )
2017
32
Retinal pigment epithelium cholesterol efflux mediated by the 18a88kDa translocator protein, TSPO, a potential target for treating age-related macular degeneration. ( 28973423 )
2017
33
Five-year progression of unilateral age-related macular degeneration to bilateral involvement: the Three Continent AMD Consortium report. ( 28108569 )
2017
34
The Role of Posterior Vitreous Detachment and Vitreomacular Adhesion in Patients With Age-Related Macular Degeneration. ( 28297034 )
2017
35
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. ( 28282489 )
2017
36
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. ( 28347358 )
2017
37
Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. ( 28635422 )
2017
38
Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations. ( 27841854 )
2017
39
In situ regeneration of retinal pigment epithelium by gene transfer of E2F2: a potential strategy for treatment of macular degenerations. ( 29188796 )
2017
40
Bilateral Herpetic Keratitis After Bilateral Intravitreal Bevacizumab for Exudative Macular Degeneration. ( 28489722 )
2017
41
Serum starvation of ARPE-19 changes the cellular distribution of cholesterol and Fibulin3 in patterns reminiscent of age-related macular degeneration. ( 29097185 )
2017
42
Risk of age-related macular degeneration in patients with prostate cancer: a nationwide, population-based cohort study. ( 28961846 )
2017
43
<i>ARMS2</i> variants may predict the 3-year outcome of photodynamic therapy for wet age-related macular degeneration. ( 28761324 )
2017
44
Association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V polymorphisms with retinal angiomatous proliferation compared with typical age-related macular degeneration: a meta-analysis. ( 28005184 )
2017
45
Risk of macular degeneration affected by polymorphisms in Matrix metalloproteinase-2: A case-control study in Chinese Han population. ( 29381911 )
2017
46
Is Choroidal or Scleral Thickness Related to Myopic Macular Degeneration? ( 28166316 )
2017
47
Bringing the age-related macular degeneration high-risk allele age-related maculopathy susceptibility 2 into focus with stem cell technology. ( 28583181 )
2017
48
Nitration of tyrosines in complement factor H domains alters its immunological activity and mediates a pathogenic role in age related macular degeneration. ( 28159936 )
2017
49
REGRESSION OF TYPE 2 NEOVASCULARIZATION INTO A TYPE 1 PATTERN AFTER INTRAVITREAL ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. ( 27627752 )
2017
50
MicroRNA Expression Analysis in Serum of Patients with Congenital Hemochromatosis and Age-Related Macular Degeneration (AMD). ( 28827515 )
2017
Sources

Variations for Macular Degeneration, Age-Related, 1

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UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 1:

75
# Symbol AA change Variation ID SNP ID
1 HMCN1 p.Gln5345Arg VAR_024818 rs121434382

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 1:

6
(show top 50) (show all 1510)
# Gene Variation Type Significance SNP ID Assembly Location
1 HMCN1 NM_031935.2(HMCN1): c.16034A> G (p.Gln5345Arg) single nucleotide variant risk factor rs121434382 GRCh37 Chromosome 1, 186147638: 186147638
2 HMCN1 NM_031935.2(HMCN1): c.16034A> G (p.Gln5345Arg) single nucleotide variant risk factor rs121434382 GRCh38 Chromosome 1, 186178506: 186178506
3 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
4 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh38 Chromosome 1, 196753076: 196839375
5 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh37 Chromosome 1, 94463617: 94463617
6 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh38 Chromosome 1, 93998061: 93998061
7 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
8 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh38 Chromosome 1, 94047009: 94047009
9 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
10 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
11 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
12 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403
13 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
14 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh38 Chromosome 1, 94113068: 94113068
15 PRPH2 NM_000322.4(PRPH2): c.469G> A (p.Asp157Asn) single nucleotide variant Likely pathogenic rs61755787 GRCh37 Chromosome 6, 42689604: 42689604
16 PRPH2 NM_000322.4(PRPH2): c.469G> A (p.Asp157Asn) single nucleotide variant Likely pathogenic rs61755787 GRCh38 Chromosome 6, 42721866: 42721866
17 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
18 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh38 Chromosome 1, 94000870: 94000870
19 FBLN5 NM_006329.3(FBLN5): c.989+13G> A single nucleotide variant Benign rs74071605 GRCh37 Chromosome 14, 92347623: 92347623
20 FBLN5 NM_006329.3(FBLN5): c.989+13G> A single nucleotide variant Benign rs74071605 GRCh38 Chromosome 14, 91881279: 91881279
21 FBLN5 NM_006329.3(FBLN5): c.863-13C> T single nucleotide variant Benign rs74071606 GRCh37 Chromosome 14, 92347775: 92347775
22 FBLN5 NM_006329.3(FBLN5): c.863-13C> T single nucleotide variant Benign rs74071606 GRCh38 Chromosome 14, 91881431: 91881431
23 FBLN5 NM_006329.3(FBLN5): c.945T> C (p.Ile315=) single nucleotide variant Benign rs2430347 GRCh37 Chromosome 14, 92347680: 92347680
24 FBLN5 NM_006329.3(FBLN5): c.945T> C (p.Ile315=) single nucleotide variant Benign rs2430347 GRCh38 Chromosome 14, 91881336: 91881336
25 ABCA4 NM_000350.2(ABCA4): c.4771G> A (p.Gly1591Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113106943 GRCh37 Chromosome 1, 94487404: 94487404
26 ABCA4 NM_000350.2(ABCA4): c.4771G> A (p.Gly1591Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113106943 GRCh38 Chromosome 1, 94021848: 94021848
27 HMCN1 NM_031935.2(HMCN1): c.114G> T (p.Gly38=) single nucleotide variant Conflicting interpretations of pathogenicity rs115169621 GRCh37 Chromosome 1, 185704025: 185704025
28 HMCN1 NM_031935.2(HMCN1): c.114G> T (p.Gly38=) single nucleotide variant Conflicting interpretations of pathogenicity rs115169621 GRCh38 Chromosome 1, 185734893: 185734893
29 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
30 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
31 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
32 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
33 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
34 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
35 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh37 Chromosome 10, 50701156: 50701156
36 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh38 Chromosome 10, 49493110: 49493110
37 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
38 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
39 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh37 Chromosome 10, 50732806: 50732806
40 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh38 Chromosome 10, 49524760: 49524760
41 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh37 Chromosome 10, 50740861: 50740861
42 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh38 Chromosome 10, 49532815: 49532815
43 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh37 Chromosome 10, 50690854: 50690854
44 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh38 Chromosome 10, 49482808: 49482808
45 ABCA4 NM_000350.2(ABCA4): c.1356+10dupG duplication Benign rs564661476 GRCh37 Chromosome 1, 94544136: 94544136
46 ABCA4 NM_000350.2(ABCA4): c.1356+10dupG duplication Benign rs564661476 GRCh38 Chromosome 1, 94078580: 94078580
47 ABCA4 NM_000350.2(ABCA4): c.1654G> A (p.Val552Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145525174 GRCh37 Chromosome 1, 94528774: 94528774
48 ABCA4 NM_000350.2(ABCA4): c.1654G> A (p.Val552Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145525174 GRCh38 Chromosome 1, 94063218: 94063218
49 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh37 Chromosome 10, 50682268: 50682268
50 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh38 Chromosome 10, 49474222: 49474222

Copy number variations for Macular Degeneration, Age-Related, 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26157 1 197500000 212100000 Copy number CFH Macular degeneration
2 26158 1 197500000 212100000 Copy number CFHR2 Macular degeneration
3 26159 1 197500000 212100000 Copy number CFHR5 Macular degeneration
4 26160 1 197500000 212100000 Copy number F13B Macular degeneration
5 39759 10 119100000 135374737 Copy number ARMS2 Macular degeneration
6 39760 10 119100000 135374737 Copy number HTRA1 Macular degeneration
Sources

Expression for Macular Degeneration, Age-Related, 1

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Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 1.
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Pathways for Macular Degeneration, Age-Related, 1

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Pathways related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Creation of C4 and C2 activators 66
Show member pathways
 11.66 CFB CFH CFHR3
2
Immune response Lectin induced complement pathway 22
Show member pathways
 11.46 CFB CFH CFHR3
3
Angiogenesis (WikiPathways) 1
10.64 TIMP3 VEGFA
4
VEGF ligand-receptor interactions 66
Show member pathways
 10.16 VEGFA VEGFB
5
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
9.58 VEGFA VEGFB
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GO Terms for Macular Degeneration, Age-Related, 1

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Cellular components related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 APOE CFB CFH CFHR1 EFEMP1 FBLN5
2 extracellular matrix GO:0031012 9.65 APOE EFEMP1 FBLN5 HMCN1 TIMP3
3 blood microparticle GO:0072562 9.35 APOE CFB CFH CFHR1 CFHR3
4 extracellular space GO:0005615 9.32 APOE CFB CFH CFHR1 CFHR3 EFEMP1
5 extracellular exosome GO:0070062 10.02 APOE CFB CFH CFHR1 CFHR3 EFEMP1

Biological processes related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.61 TIMP3 VEGFA VEGFB
2 regulation of complement activation GO:0030449 9.58 CFB CFH CFHR1
3 complement activation GO:0006956 9.5 CFB CFH CFHR1
4 artery morphogenesis GO:0048844 9.46 APOE VEGFA
5 response to stimulus GO:005089