ARMD1
MCID: MCL042
MIFTS: 85

Macular Degeneration, Age-Related, 1 (ARMD1)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases

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

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

Name: Macular Degeneration, Age-Related, 1 56 73 37 71
Macular Degeneration 40 12 74 52 29 6 42 43 15 17 71
Age-Related Macular Degeneration 12 52 25 36 29 6 62 17
Macular Degeneration, Age-Related 56 74 25 39
Age Related Macular Degeneration 40 12 15 71
Armd1 56 12 73
Age Related Macular Degeneration 1 12 15
Age-Related Macular Degeneration 1 29 6
Age-Related Maculopathy 52 25
Amd 52 25
Macular Degeneration, Age-Related, 1, Susceptibility to 6
Macular Degeneration, Age-Related, Reduced Risk of 56
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, Type 1 39
Macular Degeneration, Age-Related, 2 71
Senile Macular Retinal Degeneration 12
Macular Degeneration of Retina 12
Maculopathy, Age-Related, 1 56
Senile Macular Degeneration 12
Age Related Maculopathy 1 12
Age Related Maculopathies 12
Age Related Maculopathy 12
Maculopathy Age-Related 54
Armd 25
Arm 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
macular degeneration, age-related, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110014 DOID:10871 DOID:4448
OMIM 56 603075
OMIM Phenotypic Series 56 PS603075
KEGG 36 H00821
ICD9CM 34 362.50
MeSH 43 D008268
SNOMED-CT 67 18222007
ICD10 32 H35.30
MedGen 41 C1864205
SNOMED-CT via HPO 68 247154004 263681008 422338006
UMLS 71 C0024437 C0242383 C1864205 more

Summaries for Macular Degeneration, Age-Related, 1

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. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time. Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease. Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other. In 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to macular degeneration, age-related, 6 and macular degeneration, age-related, 4, and has symptoms including vision loss, tremor and angina pectoris. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (Hemicentin 1), and among its related pathways/superpathways are Complement and coagulation cascades and VEGF binds to VEGFR leading to receptor dimerization. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are macular hemorrhage and choroidal neovascularization

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.

NIH Rare Diseases : 52 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 : 56 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)

MedlinePlus : 42 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

KEGG : 36 Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. In AMD, there are two phenotypes, atrophic/ dry and neovascular/ wet. The former is characterized by the geographic atrophy due to death of retinal pigment epithelium, and the latter is usually characterized by the abnormal growth of new blood vessels under the macula, which causes severe loss of vision. While wet AMD can be treated by the inhibition of vascular endothelial growth factor or photodynamic therapy, so far there are no available treatments for dry AMD.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Related Diseases for Macular Degeneration, Age-Related, 1

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 top 50) (show all 623)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 6 35.9 ELOVL4 CFH CFB BEST1 ABCA4
2 macular degeneration, age-related, 4 35.9 ELOVL4 CFH CFB BEST1 ABCA4
3 macular degeneration, age-related, 2 34.9 VEGFA ABCA4
4 kuhnt-junius degeneration 32.8 VEGFB VEGFA CFHR2 CFH CFB ARMS2
5 yemenite deaf-blind hypopigmentation syndrome 32.5 VEGFA CFH ABCA4
6 eye disease 32.4 VEGFA HMCN1 ERCC6 CRYAA CNGA3 CFHR2
7 retinal disease 32.3 TIMP3 ELOVL4 EFEMP1 CRYAA CNGA3 CFH
8 retinal degeneration 32.2 TIMP3 ELOVL4 EFEMP1 CRYAA CFHR2 BEST1
9 angioid streaks 32.2 VEGFA CFHR2 CFH ARMS2
10 choroiditis 32.2 VEGFA CFH CFB ARMS2
11 vitelliform macular dystrophy 32.0 TIMP3 ELOVL4 CRYAA BEST1 ABCA4
12 multifocal choroiditis 31.9 CFH CFB ARMS2
13 retinal drusen 31.9 TIMP3 HMCN1 ERCC6 ELOVL4 EFEMP1 CFHR3
14 fundus dystrophy 31.9 VEGFA TIMP3 ERCC6 ELOVL4 EFEMP1 CRYAA
15 c3 glomerulopathy 31.9 CFHR3 CFHR1 CFH CFB
16 macular retinal edema 31.8 VEGFB VEGFA BEST1
17 microvascular complications of diabetes 5 31.8 VEGFA TIMP3 CRYAA
18 leber congenital amaurosis 31.8 ELOVL4 CRYAA CNGA3 BEST1 BBS10 ABCA4
19 scotoma 31.7 VEGFA CNGA3 ABCA4
20 dense deposit disease 31.7 CFHR2 CFH CFB
21 retinitis pigmentosa 31.7 VEGFA TIMP3 ERCC6 ELOVL4 CRYAA CNGA3
22 stargardt disease 31.7 ELOVL4 EFEMP1 CRYAA CNGA3 CFH BEST1
23 doyne honeycomb retinal dystrophy 31.7 TIMP3 HMCN1 ERCC6 ELOVL4 EFEMP1 CFHR2
24 endophthalmitis 31.6 VEGFB VEGFA CRYAA
25 cone-rod dystrophy 2 31.6 TIMP3 CRYAA CNGA3 BEST1 ABCA4
26 basal laminar drusen 31.5 HMCN1 EFEMP1 CFH CFB BEST1 ARMS2
27 cone-rod dystrophy 3 31.5 ERCC6 CRYAA ABCA4
28 color blindness 31.5 CRYAA CNGA3 ABCA4
29 complement deficiency 31.4 CFHR3 CFHR2 CFHR1 CFH CFB
30 hemolytic uremic syndrome, atypical 1 31.4 CFHR3 CFHR2 CFHR1 CFH CFB
31 hereditary retinal dystrophy 31.3 TIMP3 ELOVL4 CFHR2 ABCA4
32 cataract 31.3 VEGFA ERCC6 CRYAA BEST1 APOE
33 achromatopsia 31.3 CRYAA CNGA3 BEST1 ABCA4
34 retinal vascular disease 31.3 VEGFB VEGFA CRYAA
35 pseudoxanthoma elasticum 31.3 VEGFA TIMP3 CFH ABCA4
36 eye degenerative disease 31.3 VEGFA CRYAA ABCA4
37 retinal perforation 31.3 VEGFB VEGFA CRYAA
38 optic nerve disease 31.2 VEGFA ERCC6 CRYAA
39 hemolytic-uremic syndrome 31.2 CFHR3 CFHR2 CFHR1 CFH CFB
40 inherited retinal disorder 31.2 BEST1 BBS10 ABCA4
41 exudative vitreoretinopathy 1 31.2 VEGFB VEGFA CRYAA
42 central serous chorioretinopathy 31.1 CFH ARMS2
43 cone dystrophy 31.1 CNGA3 BEST1 ABCA4
44 retinal vascular occlusion 31.1 VEGFB VEGFA CRYAA CFHR2
45 macular dystrophy, dominant cystoid 31.1 VEGFA BEST1 ABCA4
46 sorsby fundus dystrophy 31.0 TIMP3 CFHR2 ARMS2
47 membranoproliferative glomerulonephritis 31.0 CFHR2 CFH CFB
48 familial drusen 31.0 EFEMP1 CFH
49 stargardt macular degeneration 31.0 ELOVL4 ABCA4
50 alport syndrome 30.9 VEGFA CRYAA CFH

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


Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Hypothyroidism
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

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macular hemorrhage 31 occasional (7.5%) HP:0025574
2 choroidal neovascularization 31 very rare (1%) HP:0011506
3 progressive visual loss 31 HP:0000529
4 macular degeneration 31 HP:0000608
5 geographic atrophy 31 HP:0031609
6 foveal hypopigmentation 31 HP:0012643
7 macular drusen 31 HP:0030499

Symptoms via clinical synopsis from OMIM:

56
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

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


tremor, angina pectoris, equilibration disorder

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 APOE BBS10 CFH CNGA3 EFEMP1 ELOVL4
2 pigmentation MP:0001186 9.7 ABCA4 APOE BEST1 CFH EFEMP1 ELOVL4
3 renal/urinary system MP:0005367 9.5 APOE BBS10 CFB CFH EFEMP1 TIMP3
4 vision/eye MP:0005391 9.44 ABCA4 APOE BBS10 BEST1 CFH CNGA3

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

PubMed Health treatment related to Macular Degeneration, Age-Related, 1: 62

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 358)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
4
Copper Approved, Investigational Phase 4 7440-50-8 27099
5
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
8
Polyestradiol phosphate Approved Phase 4 28014-46-2
9
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
10
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
11
Ofloxacin Approved Phase 4 82419-36-1 4583
12
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
13
Eplerenone Approved Phase 4 107724-20-9 150310 443872
14
Dipivefrin Approved Phase 4 52365-63-6 3105
15
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
16
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
17
Iodine Approved, Investigational Phase 4 7553-56-2 807
18
Povidone Approved Phase 4 9003-39-8
19
Povidone-iodine Approved Phase 4 25655-41-8
20
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
21
Zinc Approved, Investigational Phase 4 7440-66-6 32051
22
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
23
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 6433159
24
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
25
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
26
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
27
Epicatechin Investigational Phase 4 490-46-0, 35323-91-2 72276
28
Theobromine Investigational Phase 4 83-67-0 5429
29 Tocotrienol Investigational Phase 4 6829-55-6
30 Antibodies, Monoclonal Phase 4
31 Gastrointestinal Agents Phase 4
32 Antiemetics Phase 4
33
protease inhibitors Phase 4
34 BB 1101 Phase 4
35 HIV Protease Inhibitors Phase 4
36 Anti-Infective Agents Phase 4
37 Antibiotics, Antitubercular Phase 4
38 Anti-Bacterial Agents Phase 4
39 Tocolytic Agents Phase 4
40 Vasodilator Agents Phase 4
41 Pyranoprofen Phase 4
42 Norgestimate, ethinyl estradiol drug combination Phase 4
43 Contraceptive Agents Phase 4
44 Estradiol 17 beta-cypionate Phase 4
45 Topoisomerase Inhibitors Phase 4
46 Contraceptives, Oral, Combined Phase 4
47 Contraceptives, Oral Phase 4
48 Estradiol 3-benzoate Phase 4
49 Autoantibodies Phase 4
50 Dexamethasone 21-phosphate Phase 4

Interventional clinical trials:

(show top 50) (show all 1214)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Open Label, Multi-Center, Study of Maintenance Intravitreous Injections of Macugen (Pegaptanib Sodium) Given Every 6 Weeks for 48 Weeks in Subjects With Subfoveal Neovascular Age-Related Macular Degeneration (AMD) Initially Treated With a Modality Resulting in Maculopathy Improvement Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
2 Rationalization of the Systemic Treatment of Age-related Macular Degeneration With Rheohemapheresis (RHF) Unknown status NCT01943396 Phase 4
3 Pharmacogenetics in Anti-VEGF Treatment Non-responders Suffering Exudative Age-related Macular Degeneration (AMD): Genetic Correlations and Intraocular Cytokine Concentrations Unknown status NCT01213667 Phase 4 Ranibizumab
4 A 7-month, Multicenter Study to Evaluate the Efficacy of Intravitreal Injections of Aflibercept (EYLEA) 2mg /0.05 ml as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration (NVAMD). Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
5 Treat and Extend Therapy Using Intravitreal Aflibercept (IAI) for Previously Treated Patients Exiting the Wet Age-related Macular Degeneration Extension Study (0910) Unknown status NCT01961414 Phase 4 Aflibercept
6 A Multicenter Study Comparing Efficacy and Safety of " Treat-and-Extend" Regimen Versus PRN Regimen of Conbercept in Neovascular Age-related Macular Degeneration Unknown status NCT02802657 Phase 4 Conbercept
7 Random, Open-label Multicenter, Phase IV Study Assessing the Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
8 Efficacy of Ranibizumab (Lucentis) in Combination With Photodynamic Therapy for Neovascular Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
9 On-label tReatment With Intravitreal Aflibercept Injection for Patients With Persistent Pigment Epithelial Detachments in Neovascular AMD. Unknown status NCT01670162 Phase 4 Aflibercept
10 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
11 Comparison of Early Intervention of PDT Combination With Ranibizumab vs. Ranibizumab Monotherapy in Persistent PCV Patients With Initial Loading Dose Unknown status NCT02864472 Phase 4 Ranibizumab;ranibizumab PRN
12 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
13 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
14 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 Unknown status NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
15 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
16 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
17 Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment Unknown status NCT02594423 Phase 4 Bevacizumab
18 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
19 A 24-month, Randomized, Double-masked, Controlled, Multicenter Study Evaluating the Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With Neovascular Age Related Macular Degeneration (AMD) Completed NCT01775124 Phase 4 Ranibizumab
20 A Phase IV, Prospective, Open-label, Uncontrolled, European Study in Patients With Neovascular Age-related Macular Degeneration (nAMD), Evaluating the Efficacy and Safety of Switching From Intravitreal Aflibercept to Ranibizumab 0.5mg. Completed NCT02161575 Phase 4 Ranibizumab
21 Study of PRN and Every 2months Intravitreal Aflibercept After 3 Initial Monthly Injection for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
22 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®) (2mg) Over a 12-week Period for Patients Suffering From Neovascular Age-related Macular Degeneration (AMD) French SD OCT in wAMD Completed NCT02246829 Phase 4
23 Prospective, Randomized, Controlled Clinical Study Evaluating the Efficacy of Rheopheresis for Dry Age-Related Macular Degeneration Dry AMD Treatment With Rheopheresis Trial - ART Completed NCT00751361 Phase 4
24 A Prospective Pilot Study of Reduced Fluence Photodynamic Therapy With Visudyne® (Verteporfin) in Combination With Lucentis™ (Ranibizumab) for the Treatment of Age-Related Macular Degeneration Completed NCT00473642 Phase 4 Ranibizumab;Verteporfin;Verteporfin
25 Efficacy of Ranibizumab Treatment Every 2 Month Compared to Treatment on Demand on Patients With Choroidal Neo-vascularization (CNV) as a Consequence of Age-related Macular Degeneration (AMD) Completed NCT01831947 Phase 4
26 A Prospective, Interventional Case Series, Effect of Lucentis on Indocyanine Angiographic Changes in Patients With Wet Age-related Macular Degeneration Completed NCT01810042 Phase 4 ranibizumab
27 An Exploratory Single Site, Open Label, Randomized, Controlled Study to Evaluate Plasma Vascular Endothelial Growth Factor Levels After Intravitreal Injection of Ranibizumab (Lucentis) and Conbercept (Langmu) for nAMD Completed NCT02577107 Phase 4 ranibizumab;Conbercept
28 AflibercepT for Subjects Who Are Incomplete Responders to mUltiple Intravitreal Injections of Ranibizumab, Anti-VegF (The TURF Study) Completed NCT01543568 Phase 4 aflibercept 2.0 mg
29 A Phase IV, Long-term, Open-label, Multicenter Extension Study to Evaluate the Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization (CNV) Secondary to Age-related Macular Degeneration (AMD) Completed NCT00504959 Phase 4 ranibizumab
30 A 3 Months, patient-and Rater Blinded, Randomized, Prospective Study Comparing Systemic Anti-VEGF Effects Between Ranibizumab and Aflibercept in Treatment naïve Neovascular Age-related Macular Degeneration (nAMD) Patients Completed NCT01988662 Phase 4
31 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
32 Evaluation of the Usefulness of a Treat and Extend Regimen Using Ranibizumab for Neovascular Age-Related Macular Degeneration. Completed NCT02321839 Phase 4 Intraviteal Ranibizumab 0.5mg
33 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
34 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
35 The Effect of Intravitreal Aflibercept on Ocular Perfusion - a Pilot Study Completed NCT03804099 Phase 4 Aflibercept Injection [Eylea]
36 A Randomized, Open-label Phase 4 Study Evaluating the Efficacy and Safety of Repeated Doses of Intravitreal Aflibercept With Variable Treatment Intervals in Japanese Subjects With Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
37 An Open-Label, Multicenter, Phase 4 Study of the Effect of Verteporfin for Injection Therapy in Subjects With Occult With No Classic Choroidal NeoVascularization Secondary to Age-Related Macular Degeneration Completed NCT00135837 Phase 4 Verteporfin for injection
38 A 12-month, Phase IV, Randomized, Open Label, Multicenter Study to Compare Efficacy of 0.5 mg Ranibizumab Pro re Nata (PRN) Versus 2 mg Aflibercept Bimonthly Intravitreal Injections on Retinal Thickness Stability Till Month 6 of Treatment and Explore Functional Outcomes up to Month 12 in Patients With Neovascular (Wet) Age-related Macular Degeneration (AMD) Completed NCT01958918 Phase 4 Ranibizumab;Aflibercept
39 A Randomized, Single-blinded, Multicenter, Phase IV Study to Compare Systemic VEGF Protein Dynamics Following Monthly Intravitreal Injections of 0.5 mg Ranibizumab Versus 2 mg Aflibercept Until Study Week 12 in Patients With Neovascular (Wet) Age-related Macular Degeneration Completed NCT02257632 Phase 4 Ranibizumab 0.5 mg;Aflibercept 2 mg
40 An Open-Label Study of the Efficacy, Safety, and Tolerability of Intravitreal Administration of VEGF Trap-Eye (Intravitreal Aflibercept Injection) in Patients With Neovascular Age-Related Macular Degeneration Completed NCT01722045 Phase 4 Intravitreal Aflibercept Injection (IAI)
41 Intravitreal Ranibizumab in Patients With Retinal Pigment Epithelial Detachments Secondary to Age-related Macular Degeneration Completed NCT00976222 Phase 4 intravitreal injection with ranibizumab
42 Prospective Randomized Controlled Trial of Combination Ranibizumab and Indomethacin for Exudative Age-Related Macular Degeneration Completed NCT03261635 Phase 4 Ranibizumab Injection;Indomethacin
43 A 12-month, Exploratory Open-label Study of Eylea (Aflibercept) in Subjects With Retinal Pigment Epithelial Detachment Secondary to Neovascular Age-related Macular Degeneration Completed NCT02142296 Phase 4 Eylea
44 Development of New Geographic Atrophy in Patients With Neovascular (Wet) Age-related Macular Degeneration: a Comparison of Ranibizumab and Aflibercept Completed NCT02130024 Phase 4 Ranibizumab 0.5 mg;Aflibercept 2.0 mg
45 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept in Patients With Exudative Age-related Macular Degeneration Completed NCT02125864 Phase 4 Aflibercept
46 Phase IV Study to Evaluate the Efficacy of Aflibercept in Subjects With Neovascular Age-related Macular Degeneration (wAMD), Without Optimal Response to Repeated Monthly Intravitreal Injections of Anti Vascular Endothelial Growth Factor (Anti VEGF-A) Therapy. Completed NCT01896284 Phase 4 0.5mg aflibercept
47 Clinical and Genetic Assessment of Treatment Response in Patients With Age-related Macular Degeneration Using Intravitreal Aflibercept Injection Completed NCT02689518 Phase 4 Intravitreal aflibercept injection
48 Combined Therapy in ARMD - Retrospective Case Series Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
49 A Prospective, Open-Label Multi Center Trial Evaluating The Safety And Efficacy Of 0.3 Mg/Eye Pegaptanib Sodium (Macugen) Intravitreous Injection Given Every 6 Weeks For 54 Weeks In Patients With Small Neovascular Age-Related Macular Degeneration (AMD) Lesions Completed NCT00324116 Phase 4 pegaptanib sodium (Macugen)
50 A Randomised Controlled Trial of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Interferon Alfa-2a
Interferon Alfa-2b
INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED
interferon alfacon-1
Interferon gamma-1b
Interferons
peginterferon alfa-2a
peginterferon alfa-2b
Recombinant interferon beta-1a
Recombinant interferon beta-1b

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.

Cochrane evidence based reviews: macular degeneration

Genetic Tests for Macular Degeneration, Age-Related, 1

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
3 Macular Degeneration 29

Anatomical Context for Macular Degeneration, Age-Related, 1

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

40
Eye, Endothelial, Retina, Testes, Bone, Brain, Heart
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 Affected by disease, potential therapeutic candidate
2 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease, potential therapeutic candidate
3 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
4 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease, potential therapeutic candidate
5 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease, potential therapeutic candidate
6 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate

Publications for Macular Degeneration, Age-Related, 1

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

(show top 50) (show all 19406)
# Title Authors PMID Year
1
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 61 56 6
25986072 2015
2
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). 61 56 6
17216616 2007
3
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. 61 56 6
14570714 2003
4
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. 61 56 6
9715689 1998
5
The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. 61 56
26383995 2015
6
The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals. 61 56
26298717 2015
7
Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity. 61 56
25414314 2014
8
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 61 6
23972322 2013
9
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. 61 56
22484808 2012
10
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. 61 56
22541070 2012
11
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 61 56
21909106 2011
12
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. 61 56
21297615 2011
13
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 61 6
20843825 2010
14
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. 61 56
20087399 2010
15
CCR3 is a target for age-related macular degeneration diagnosis and therapy. 61 56
19525930 2009
16
A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD. 61 56
19450445 2009
17
Geographic atrophy in age-related macular degeneration and TLR3. 61 56
19469037 2009
18
Geographic atrophy in age-related macular degeneration and TLR3. 61 56
19469038 2009
19
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. 61 56
18753640 2008
20
Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. 61 56
18368052 2008
21
Progress in defining the molecular biology of age related macular degeneration. 61 56
17659362 2007
22
Clinical characteristics of exudative age-related macular degeneration in Japanese patients. 61 56
17509509 2007
23
Genetics of pigment changes and geographic atrophy. 61 56
17591865 2007
24
Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study. 61 56
17275090 2007
25
Cigarette smoking and age-related macular degeneration in the EUREYE Study. 61 56
17337063 2007
26
Human retinal pigment epithelium cell changes and expression of alphaB-crystallin: a biomarker for retinal pigment epithelium cell change in age-related macular degeneration. 61 56
17502503 2007
27
Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. 61 56
17280640 2007
28
Scavenger receptors for oxidized lipoprotein in age-related macular degeneration. 61 56
17389514 2007
29
Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study. 61 56
17386278 2007
30
Estimation of systemic complement C3 activity in age-related macular degeneration. 61 56
17420372 2007
31
High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women. 61 56
17353399 2007
32
Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study. 61 56
17325139 2007
33
Serum dehydroepiandrosterone sulphate level in age-related macular degeneration. 61 56
17157799 2007
34
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 61 6
17251446 2007
35
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 61 6
16998489 2006
36
Age-related macular degeneration. 61 56
17021323 2006
37
Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. 61 56
16844785 2006
38
The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration. 61 56
16639025 2006
39
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 61 6
16280978 2005
40
Smoking and age-related macular degeneration: a review of association. 61 56
16151432 2005
41
Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. 61 56
16079201 2005
42
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. 61 56
16020313 2005
43
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. 61 56
15882908 2005
44
Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers. 61 56
15955978 2005
45
Association of HLA class I and class II polymorphisms with age-related macular degeneration. 61 56
15851575 2005
46
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. 61 56
15860286 2005
47
Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration. 61 56
15728529 2005
48
5-year incidence of age-related maculopathy in the Reykjavik Eye Study. 61 56
15629833 2005
49
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 61 56
15168325 2004
50
Current concepts in the pathogenesis of age-related macular degeneration. 61 56
15078679 2004

Variations for Macular Degeneration, Age-Related, 1

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

6 (show top 50) (show all 824) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HMCN1 NM_031935.3(HMCN1):c.4163del (p.Pro1388fs)deletion Pathogenic 217863 rs879255520 1:185970522-185970522 1:186001390-186001390
2 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
3 CFHR1 , CFHR3 NC_000001.10:g.(196722206_?)_(?_196808505)deldeletion Pathogenic,risk factor 5065 1:196722206-196808505 1:196753076-196839375
4 ABCA4 NM_000350.3(ABCA4):c.67-2A>GSNV Pathogenic 92871 rs398123339 1:94578624-94578624 1:94113068-94113068
5 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870
6 CNGA3 NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys)SNV Pathogenic/Likely pathogenic 9481 rs104893620 2:99012462-99012462 2:98395999-98395999
7 HMCN1 NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)SNV risk factor 2205 rs121434382 1:186147638-186147638 1:186178506-186178506
8 PRPH2 NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)SNV Likely pathogenic 98671 rs61755787 6:42689604-42689604 6:42721866-42721866
9 ABCA4 NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)SNV Likely pathogenic 373916 rs1057518767 1:94564430-94564430 1:94098874-94098874
10 CFHR3 NM_021023.5(CFHR3):c.803G>T (p.Cys268Phe)SNV Likely pathogenic 523008 rs745503234 1:196762453-196762453 1:196793323-196793323
11 C3 NM_000064.4(C3):c.1898A>G (p.Lys633Arg)SNV Conflicting interpretations of pathogenicity 330314 rs140655115 19:6707888-6707888 19:6707877-6707877
12 C3 NM_000064.4(C3):c.1767C>T (p.His589=)SNV Conflicting interpretations of pathogenicity 330319 rs775843240 19:6709773-6709773 19:6709762-6709762
13 C3 NM_000064.4(C3):c.1407G>C (p.Glu469Asp)SNV Conflicting interpretations of pathogenicity 330325 rs11569422 19:6711070-6711070 19:6711059-6711059
14 C3 NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)SNV Conflicting interpretations of pathogenicity 330292 rs11569534 19:6686274-6686274 19:6686263-6686263
15 C2 , CFB NM_000063.6(C2):c.1360+1G>ASNV Conflicting interpretations of pathogenicity 369516 rs140225293 6:31910877-31910877 6:31943100-31943100
16 ERCC6 NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)SNV Conflicting interpretations of pathogenicity 300090 rs764159237 10:50732414-50732414 10:49524368-49524368
17 ERCC6 NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)SNV Conflicting interpretations of pathogenicity 300086 rs141391984 10:50732318-50732318 10:49524272-49524272
18 HTRA1 NM_002775.5(HTRA1):c.879C>T (p.Thr293=)SNV Conflicting interpretations of pathogenicity 299051 rs149294320 10:124266308-124266308 10:122506792-122506792
19 ERCC6 NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=)SNV Conflicting interpretations of pathogenicity 300045 rs374791168 10:50678412-50678412 10:49470366-49470366
20 ERCC6 NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)SNV Conflicting interpretations of pathogenicity 300048 rs886047034 10:50678526-50678526 10:49470480-49470480
21 ERCC6 NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)SNV Conflicting interpretations of pathogenicity 300083 rs4253046 10:50732202-50732202 10:49524156-49524156
22 FBLN5 NM_006329.3(FBLN5):c.1191G>A (p.Thr397=)SNV Conflicting interpretations of pathogenicity 314871 rs148660796 14:92336724-92336724 14:91870380-91870380
23 FBLN5 NM_006329.3(FBLN5):c.224T>C (p.Val75Ala)SNV Conflicting interpretations of pathogenicity 314881 rs145108467 14:92403446-92403446 14:91937102-91937102
24 RAX2 NM_032753.4(RAX2):c.156G>A (p.Pro52=)SNV Conflicting interpretations of pathogenicity 328969 rs141804618 19:3771585-3771585 19:3771587-3771587
25 ABCA4 NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)SNV Conflicting interpretations of pathogenicity 99441 rs61748519 1:94467441-94467441 1:94001885-94001885
26 ABCA4 NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)SNV Conflicting interpretations of pathogenicity 99448 rs62642564 1:94466624-94466624 1:94001068-94001068
27 ABCA4 NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)SNV Conflicting interpretations of pathogenicity 99492 rs77293072 1:94461749-94461749 1:93996193-93996193
28 ABCA4 NM_000350.3(ABCA4):c.71G>A (p.Arg24His)SNV Conflicting interpretations of pathogenicity 99498 rs62645958 1:94578618-94578618 1:94113062-94113062
29 ABCA4 NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)SNV Conflicting interpretations of pathogenicity 136239 rs570745701 1:94508360-94508360 1:94042804-94042804
30 ABCA4 NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)SNV Conflicting interpretations of pathogenicity 136241 rs147884766 1:94502755-94502755 1:94037199-94037199
31 ABCA4 NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)SNV Conflicting interpretations of pathogenicity 236095 rs368846708 1:94512518-94512518 1:94046962-94046962
32 ABCA4 NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)SNV Conflicting interpretations of pathogenicity 236083 rs201602424 1:94528814-94528814 1:94063258-94063258
33 ABCA4 NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)SNV Conflicting interpretations of pathogenicity 236075 rs201150919 1:94574258-94574258 1:94108702-94108702
34 ERCC6 NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)SNV Conflicting interpretations of pathogenicity 252466 rs148095899 10:50740611-50740611 10:49532565-49532565
35 FBLN5 NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg)SNV Conflicting interpretations of pathogenicity 21453 rs80338765 14:92357580-92357580 14:91891236-91891236
36 ABCA4 NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)SNV Conflicting interpretations of pathogenicity 283387 rs140482171 1:94543268-94543268 1:94077712-94077712
37 FBLN5 NM_006329.3(FBLN5):c.621T>C (p.Asp207=)SNV Conflicting interpretations of pathogenicity 287193 rs200178859 14:92353655-92353655 14:91887311-91887311
38 ERCC6 NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)SNV Conflicting interpretations of pathogenicity 287219 rs55698015 10:50690806-50690806 10:49482760-49482760
39 ERCC6 NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)SNV Conflicting interpretations of pathogenicity 288967 rs61760166 10:50678356-50678356 10:49470310-49470310
40 HMCN1 NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys)SNV Conflicting interpretations of pathogenicity 294118 rs34692227 1:185934999-185934999 1:185965867-185965867
41 HMCN1 NM_031935.3(HMCN1):c.2212+8T>GSNV Conflicting interpretations of pathogenicity 294119 rs183165464 1:185935055-185935055 1:185965923-185965923
42 ERCC6 NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)SNV Conflicting interpretations of pathogenicity 1707 rs4253208 10:50678722-50678722 10:49470676-49470676
43 ABCA4 NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)SNV Conflicting interpretations of pathogenicity 7880 rs58331765 1:94512602-94512602 1:94047046-94047046
44 ABCA4 NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)SNV Conflicting interpretations of pathogenicity 7884 rs41292677 1:94467548-94467548 1:94001992-94001992
45 FBLN5 NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)SNV Conflicting interpretations of pathogenicity 218359 rs144288844 14:92403402-92403402 14:91937058-91937058
46 FBLN5 NM_006329.3(FBLN5):c.376G>A (p.Val126Met)SNV Conflicting interpretations of pathogenicity 218360 rs61734479 14:92403294-92403294 14:91936950-91936950
47 ABCA4 NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)SNV Conflicting interpretations of pathogenicity 166616 rs113106943 1:94487404-94487404 1:94021848-94021848
48 HMCN1 NM_031935.3(HMCN1):c.114G>T (p.Gly38=)SNV Conflicting interpretations of pathogenicity 167179 rs115169621 1:185704025-185704025 1:185734893-185734893
49 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)SNV Conflicting interpretations of pathogenicity 190164 rs139007661 10:50678884-50678884 10:49470838-49470838
50 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)SNV Conflicting interpretations of pathogenicity 190156 rs61760163 10:50690906-50690906 10:49482860-49482860

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

73
# Symbol AA change Variation ID SNP ID
1 HMCN1 p.Gln5345Arg VAR_024818 rs121434382

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

7
# CNVD ID Chromosome 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

Expression for Macular Degeneration, Age-Related, 1

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

Pathways for Macular Degeneration, Age-Related, 1

Pathways related to Macular Degeneration, Age-Related, 1 according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

# Super pathways Score Top Affiliating Genes
1 11.18 CFHR3 CFHR2 CFHR1 CFH CFB
2
Show member pathways
10.36 VEGFB VEGFA
3 9.91 VEGFB VEGFA

GO Terms for Macular Degeneration, Age-Related, 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 VEGFB VEGFA TIMP3 EFEMP1 CFHR3 CFHR1
2 extracellular region GO:0005576 9.65 VEGFB VEGFA TIMP3 HMCN1 EFEMP1 CFHR2
3 extracellular matrix GO:0031012 9.56 VEGFA TIMP3 EFEMP1 APOE
4 blood microparticle GO:0072562 9.02 CFHR3 CFHR1 CFH CFB APOE

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.69 VEGFB VEGFA TIMP3
2 complement activation GO:0006956 9.63 CFHR1 CFH CFB
3 response to stimulus GO:0050896 9.5 TIMP3 HMCN1 CRYAA CNGA3 BEST1 BBS10
4 regulation of protein complex assembly GO:0043254 9.49 BBS10 APOE
5 vascular endothelial growth factor signaling pathway GO:0038084 9.48 VEGFB VEGFA
6 regulation of complement activation GO:0030449 9.46 CFHR2 CFHR1 CFH CFB
7 induction of positive chemotaxis GO:0050930 9.43 VEGFB VEGFA
8 photoreceptor cell maintenance GO:0045494 9.43 ERCC6 BBS10 ABCA4
9 complement activation, alternative pathway GO:0006957 9.4 CFH CFB
10 positive regulation of cytolysis GO:0045919 9.37 CFHR2 CFHR1
11 positive regulation of mast cell chemotaxis GO:0060754 9.32 VEGFB VEGFA
12 visual perception GO:0007601 9.23 TIMP3 HMCN1 EFEMP1 CRYAA CNGA3 BEST1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.73 VEGFB VEGFA HMCN1 CFHR2 CFHR1 APOE
2 heparan sulfate proteoglycan binding GO:0043395 9.32 CFH APOE
3 heparin binding GO:0008201 9.26 VEGFB VEGFA CFH APOE
4 vascular endothelial growth factor receptor binding GO:0005172 9.16 VEGFB VEGFA
5 vascular endothelial growth factor receptor 1 binding GO:0043183 8.62 VEGFB VEGFA

Sources for Macular Degeneration, Age-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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