ARMD1
MCID: MCL042
MIFTS: 85

Macular Degeneration, Age-Related, 1 (ARMD1)

Categories: Blood diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 57 72 37 70
Macular Degeneration 40 12 73 20 29 6 42 44 15 17 70
Age-Related Macular Degeneration 12 20 43 36 29 6 62 17
Macular Degeneration, Age-Related 57 73 43 39
Age Related Macular Degeneration 40 12 15 70
Armd1 57 12 72
Age Related Macular Degeneration 1 12 15
Age-Related Macular Degeneration 1 29 6
Age-Related Maculopathy 20 43
Amd 20 43
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 39
Macular Degeneration, Age-Related, 2 70
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
Maculopathy, Age-Related 6
Age Related Maculopathy 12
Maculopathy Age-Related 54
Abnormality of the Arm 6
Armd 43
Arm 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 603075
OMIM Phenotypic Series 57 PS603075
KEGG 36 H00821
ICD9CM 34 362.50
MeSH 44 D008268
SNOMED-CT 67 18222007 302891003
ICD10 32 H35.30
MedGen 41 C1864205
SNOMED-CT via HPO 68 247154004 263681008 422338006
UMLS 70 C0024437 C0242383 C1864205 more

Summaries for Macular Degeneration, Age-Related, 1

MedlinePlus Genetics : 43 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 ligand-receptor interactions. The drugs Nepafenac and Bevacizumab 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.

GARD : 20 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 671)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 6 33.8 ELOVL4 CFH BEST1 ABCA4
2 macular degeneration, age-related, 4 33.8 ELOVL4 CFH BEST1 ABCA4
3 bestrophinopathy, autosomal recessive 32.9 PRPH2 BEST1 ABCA4
4 retinoschisis 1, x-linked, juvenile 32.8 USH2A CNGA3 BEST1 ABCA4
5 fundus albipunctatus 32.5 PRPH2 ELOVL4 BEST1 ABCA4
6 stargardt disease 3 32.5 ELOVL4 ABCA4
7 stargardt disease 1 32.4 PRPH2 BEST1 ABCA4
8 kuhnt-junius degeneration 32.3 VEGFB VEGFA CRYAA CFHR2 CFH ARMS2
9 yemenite deaf-blind hypopigmentation syndrome 32.2 VEGFA USH2A CFH ABCA4
10 eye disease 32.0 VEGFA USH2A PRPH2 HMCN1 ERCC6 CRYAA
11 angioid streaks 32.0 VEGFA CFHR2 CFH ARMS2
12 choroiditis 31.9 VEGFA CFH ARMS2 ABCA4
13 glaucoma, primary open angle 31.8 VEGFA CRYAA ABCA4
14 retinal disease 31.8 USH2A PRPH2 ELOVL4 CRYAA CNGA3 CFH
15 retinal degeneration 31.8 USH2A PRPH2 FSCN2 ELOVL4 CRYAA CFHR2
16 cone-rod dystrophy 2 31.7 USH2A PRPH2 FSCN2 ELOVL4 CRYAA CNGA3
17 leber plus disease 31.7 VEGFA USH2A PRPH2 FSCN2 ELOVL4 CRYAA
18 multifocal choroiditis 31.6 CFH ARMS2
19 macular retinal edema 31.5 VEGFB VEGFA CRYAA CFH BEST1
20 cataract 31.5 VEGFA MT-TL1 ERCC6 CRYAA BEST1 APOE
21 dense deposit disease 31.4 CFHR2 CFH
22 fundus dystrophy 31.4 VEGFA USH2A PRPH2 HMCN1 FSCN2 ERCC6
23 night blindness 31.4 USH2A PRPH2 CFHR2 ABCA4
24 nonsyndromic retinitis pigmentosa 31.4 USH2A BEST1 ABCA4
25 eye degenerative disease 31.4 VEGFA USH2A PRPH2 ERCC6 ELOVL4 CRYAA
26 cone-rod dystrophy 3 31.4 ERCC6 CRYAA ABCA4
27 neovascular glaucoma 31.4 VEGFB VEGFA CRYAA
28 scotoma 31.3 VEGFA USH2A CNGA3 ABCA4
29 retinitis pigmentosa 31.3 VEGFA USH2A PRPH2 MT-TL1 FSCN2 ERCC6
30 color blindness 31.2 CRYAA CNGA3 ABCA4
31 retinal drusen 31.2 HMCN1 ERCC6 ELOVL4 CFHR3 CFHR2 CFHR1
32 hereditary retinal dystrophy 31.2 USH2A PRPH2 ELOVL4 CRYAA CFHR2 BEST1
33 cone dystrophy 31.2 USH2A PRPH2 CRYAA CNGA3 BEST1 BBS10
34 endophthalmitis 31.2 VEGFB VEGFA CRYAA
35 stargardt disease 31.2 USH2A PRPH2 ELOVL4 CNGA3 CFH BEST1
36 doyne honeycomb retinal dystrophy 31.1 PRPH2 HMCN1 ERCC6 ELOVL4 CRYAA CFHR3
37 complement deficiency 31.1 CFHR3 CFHR2 CFHR1 CFH
38 achromatopsia 31.1 USH2A PRPH2 CRYAA CNGA3 BEST1 ABCA4
39 chorioretinal scar 31.0 VEGFA BEST1 ABCA4
40 retinal perforation 31.0 VEGFB VEGFA CRYAA
41 retinal artery occlusion 31.0 VEGFB VEGFA CRYAA
42 retinal vascular disease 31.0 VEGFB VEGFA CRYAA
43 basal laminar drusen 30.9 HMCN1 CFH BEST1 ARMS2 ABCA4
44 keratitis, hereditary 30.9 VEGFA CRYAA BEST1
45 hemolytic uremic syndrome, atypical 1 30.9 CFHR3 CFHR2 CFHR1 CFH ARMS2
46 pathologic nystagmus 30.8 CRYAA CNGA3 ABCA4
47 central serous chorioretinopathy 30.8 CFH ARMS2
48 branch retinal artery occlusion 30.8 VEGFA CRYAA
49 vitelliform macular dystrophy 30.8 USH2A PRPH2 ELOVL4 CNGA3 CFH BEST1
50 pseudoxanthoma elasticum 30.8 VEGFA CFH ABCA4

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


Acute Cystitis Brain Small Vessel Disease 1 with or Without Ocular Anomalies
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 macular drusen 31 HP:0030499
6 geographic atrophy 31 HP:0031609
7 foveal hypopigmentation 31 HP:0012643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 ABCA4 APOE BBS10 CFH CNGA3 ELOVL4
2 vision/eye MP:0005391 9.47 ABCA4 APOE BBS10 BEST1 CFH CNGA3
3 pigmentation MP:0001186 9.43 ABCA4 APOE BEST1 CFH ELOVL4 PRPH2

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 295)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
2
Bevacizumab Approved, Investigational Phase 4 216974-75-3
3
Temazepam Approved, Investigational Phase 4 846-50-4 5391
4
Povidone Approved Phase 4 9003-39-8 131751496
5
Povidone-iodine Approved Phase 4 25655-41-8
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
9
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
14
Catechin Approved, Withdrawn Phase 4 154-23-4 9064
15
Zinc Approved, Investigational Phase 4 7440-66-6 32051
16
Tocopherol Approved, Investigational Phase 4 1406-66-2
17
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 5281243
18
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
19
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
20
Cadexomer iodine Experimental Phase 4 94820-09-4
21
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
22
Epicatechin Investigational Phase 4 490-46-0 72276
23
Theobromine Investigational Phase 4 83-67-0 5429
24 Tocotrienol Investigational Phase 4 6829-55-6
25 Lubricant Eye Drops Phase 4
26 Cathartics Phase 4
27 Laxatives Phase 4
28 Carboxymethylcellulose Sodium Phase 4
29 Antineoplastic Agents, Immunological Phase 4
30 Psychotropic Drugs Phase 4
31 Hypnotics and Sedatives Phase 4
32 GABA Modulators Phase 4
33 Anti-Anxiety Agents Phase 4
34 Cyclooxygenase Inhibitors Phase 4
35 Anti-Infective Agents, Local Phase 4
36 Disinfectants Phase 4
37 Plasma Substitutes Phase 4
38 Blood Substitutes Phase 4
39 Pyranoprofen Phase 4
40 Tocolytic Agents Phase 4
41 Methylprednisolone Acetate Phase 4
42 Neuroprotective Agents Phase 4
43 Omega 3 Fatty Acid Phase 4
44 Vitamins Phase 4
45 Tocotrienols Phase 4
46 Tocopherols Phase 4
47
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
48
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
49
Dorzolamide Approved Phase 2, Phase 3 120279-96-1 3154 5284549
50
Timolol Approved Phase 2, Phase 3 26839-75-8 33624 5478

Interventional clinical trials:

(show top 50) (show all 1150)
# Name Status NCT ID Phase Drugs
1 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)
2 Two-week Retreatment Interval Study for Treated Age-related Macular Degeneration Refractory to Monthly Aflibercept Unknown status NCT03468296 Phase 4 Intravitreal Aflibercept Injection 2mg
3 Rationalization of the Systemic Treatment of Age-related Macular Degeneration With Rheohemapheresis (RHF) Unknown status NCT01943396 Phase 4
4 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
5 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)
6 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
7 Pain Control Following Intravitreal Injection Using Topical Nepefanac 0.3% or Pressure Patching: A Prospective, Randomized, Placebo Controlled Trial Unknown status NCT03918590 Phase 4 nepafenac 0.3% suspension (Ilevro; Alcon, Fort Worth, TX);Theratears tear drop, (Akron, Ann 111 Arbor, MI)
8 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
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 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
12 Efficacy of Ranibizumab (Lucentis) in Combination With Photodynamic Therapy for Neovascular Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
13 Multicenter Randomized Controlled Study of Intravitreal Ranibizumab and Triamcinolone Acetonide Combination Therapy Versus Ranibizumab Monotherapy in Patients With Polypoidal Choroidal Vasculopathy Unknown status NCT02806752 Phase 4 Triamcinolone Acetonide;Ranibizumab
14 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
15 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
16 LUCAS. A Randomized, Prospective, Multicenter Study Comparing the Effect of Intravitreal Injection of Bevacizumab to Ranibizumab When Given to Patients With Neovascular Age-related Macular Degeneration Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
17 A 12 Months, Prospective, Multicenter, Open-label, Single Arm Interventional Study Assessing the Safety and Tolerability of 0.5 mg Ranibizumab in Mono/Bilateral Wet AMD Patients in Eyes With (Best-Corrected Distance Visual Acuity) BCVA Below 2/10 and/or Second Affected Eye Completed NCT01986907 Phase 4 ranibizumab
18 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
19 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
20 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
21 Combined Therapy in ARMD - Retrospective Case Series Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
22 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
23 A Clinical Trial to Assess the Impact of Home Monitoring to Decrease the Treatment Burden for Neovascular Macular Degeneration (the LIBERTY Study). Completed NCT01863199 Phase 4 Lucentis (Treat and extend);Lucentis every 4 weeks;Lucentis every 12 weeks
24 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
25 FUSION Regimen: A Disease Activity Guided Treatment Algorithm With Ranibizumab in naïve Subjects With Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
26 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
27 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
28 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
29 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
30 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
31 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
32 Clinical Research of Photodynamic Therapy for Exudative Age-related Macular Degeneration Accompanied With Polypoidal Choroidal Vasculopathy Completed NCT00331435 Phase 4
33 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
34 Study of PRN and Every 2months Intravitreal Aflibercept After 3 Initial Monthly Injection for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
35 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
36 Efficacy of Intravitreal Aflibercept Monotherapy for Submacular Hemorrhage Secondary to Neovascular Age-Related Macular Degeneration: A Prospective Clinical Trial Completed NCT03169660 Phase 4 Vascular endothelial growth factor trap-eye
37 Single or Combined Protocols for the Treatment of Patients With Neovascular Age-related Macular Degeneration: Compliance, Risk/Benefit and Cost/Benefit Ratios Completed NCT03552770 Phase 4 Bevacizumab
38 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
39 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)
40 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
41 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
42 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
43 A Phase IV, Randomised, Single Masked Study Investigating the Efficacy and Safety of Ranibizumab "Inject and Extend" Using an Intensive Retinal Fluid Retreatment Regimen Compared to a Relaxed Retinal Fluid Retreatment Regimen in Patients With Wet Age-related Macular Degeneration (AMD) Completed NCT01972789 Phase 4 Ranibizumab
44 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
45 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
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 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)
48 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
49 A Randomised Controlled Trial of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
50 A Single Arm, Investigator Initiated Study of the Efficacy, Safety, and Tolerability of Intravitreal Aflibercept Injection in Subjects With Exudative Age-related Macular Degeneration Previously Treated With Ranibizumab or Bevacizumab (ASSESS Study) Completed NCT01617148 Phase 4 Aflibercept

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Bone Marrow, Bone, Brain, Monocytes
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 21350)
# Title Authors PMID Year
1
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 61 6 57
25986072 2015
2
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). 61 6 57
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. 57 6 61
14570714 2003
4
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. 61 57 6
9715689 1998
5
The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. 57 61
26383995 2015
6
The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals. 57 61
26298717 2015
7
Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity. 61 57
25414314 2014
8
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. 57 61
22484808 2012
9
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. 57 61
22541070 2012
10
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 61 57
21909106 2011
11
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. 61 57
21297615 2011
12
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 6 61
20843825 2010
13
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. 61 57
20087399 2010
14
CCR3 is a target for age-related macular degeneration diagnosis and therapy. 61 57
19525930 2009
15
A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD. 61 57
19450445 2009
16
Geographic atrophy in age-related macular degeneration and TLR3. 61 57
19469038 2009
17
Geographic atrophy in age-related macular degeneration and TLR3. 61 57
19469037 2009
18
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. 57 61
18753640 2008
19
Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. 57 61
18368052 2008
20
Progress in defining the molecular biology of age related macular degeneration. 57 61
17659362 2007
21
Clinical characteristics of exudative age-related macular degeneration in Japanese patients. 61 57
17509509 2007
22
Genetics of pigment changes and geographic atrophy. 57 61
17591865 2007
23
Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study. 57 61
17275090 2007
24
Cigarette smoking and age-related macular degeneration in the EUREYE Study. 61 57
17337063 2007
25
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 57
17502503 2007
26
Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study. 61 57
17386278 2007
27
Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. 57 61
17280640 2007
28
Scavenger receptors for oxidized lipoprotein in age-related macular degeneration. 57 61
17389514 2007
29
Estimation of systemic complement C3 activity in age-related macular degeneration. 61 57
17420372 2007
30
Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study. 61 57
17325139 2007
31
High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women. 57 61
17353399 2007
32
Serum dehydroepiandrosterone sulphate level in age-related macular degeneration. 57 61
17157799 2007
33
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 61 6
17251446 2007
34
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 61 6
16998489 2006
35
Age-related macular degeneration. 61 57
17021323 2006
36
Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. 57 61
16844785 2006
37
The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration. 57 61
16639025 2006
38
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 6 61
16280978 2005
39
Smoking and age-related macular degeneration: a review of association. 61 57
16151432 2005
40
Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. 61 57
16079201 2005
41
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. 61 57
15882908 2005
42
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. 57 61
16020313 2005
43
Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers. 57 61
15955978 2005
44
Association of HLA class I and class II polymorphisms with age-related macular degeneration. 61 57
15851575 2005
45
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. 57 61
15860286 2005
46
Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration. 57 61
15728529 2005
47
5-year incidence of age-related maculopathy in the Reykjavik Eye Study. 57 61
15629833 2005
48
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 61 57
15168325 2004
49
Current concepts in the pathogenesis of age-related macular degeneration. 57 61
15078679 2004
50
The epidemiology of age-related macular degeneration. 57 61
15013873 2004

Variations for Macular Degeneration, Age-Related, 1

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

6 (show top 50) (show all 749)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HMCN1 NM_031935.3(HMCN1):c.4163del (p.Pro1388fs) Deletion Pathogenic 217863 rs879255520 GRCh37: 1:185970522-185970522
GRCh38: 1:186001390-186001390
2 ABCA4 NM_000350.3(ABCA4):c.5977del (p.Ser1993fs) Deletion Pathogenic 930749 GRCh37: 1:94473218-94473218
GRCh38: 1:94007662-94007662
3 ABCA4 NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) Duplication Pathogenic 374183 rs1057518955 GRCh37: 1:94485158-94485159
GRCh38: 1:94019602-94019603
4 overlap with 2 genes NC_000001.10:g.(196722206_?)_(?_196808505)del Deletion Pathogenic 5065 GRCh37: 1:196722206-196808505
GRCh38: 1:196753076-196839375
5 ABCA4 NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) SNV Pathogenic 373916 rs1057518767 GRCh37: 1:94564430-94564430
GRCh38: 1:94098874-94098874
6 ABCA4 NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) Deletion Pathogenic 636147 rs1571264574 GRCh37: 1:94496583-94496583
GRCh38: 1:94031027-94031027
7 FSCN2 NM_012418.4(FSCN2):c.72del (p.Thr25fs) Deletion Pathogenic 2945 rs376633374 GRCh37: 17:79495629-79495629
GRCh38: 17:81528603-81528603
8 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV Pathogenic 99460 rs61750654 GRCh37: 1:94466426-94466426
GRCh38: 1:94000870-94000870
9 ABCA4 NM_000350.3(ABCA4):c.67-2A>G SNV Pathogenic 92871 rs398123339 GRCh37: 1:94578624-94578624
GRCh38: 1:94113068-94113068
10 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) Deletion Pathogenic 99419 rs61751389 GRCh37: 1:94473278-94473278
GRCh38: 1:94007722-94007722
11 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic 99224 rs1801269 GRCh37: 1:94506901-94506901
GRCh38: 1:94041345-94041345
12 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV Pathogenic 99083 rs55732384 GRCh37: 1:94577117-94577117
GRCh38: 1:94111561-94111561
13 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic 99431 rs61753038 GRCh37: 1:94471026-94471026
GRCh38: 1:94005470-94005470
14 ABCA4 NM_000350.3(ABCA4):c.5312+1G>A SNV Pathogenic 236128 rs886044750 GRCh37: 1:94481294-94481294
GRCh38: 1:94015738-94015738
15 ABCA4 NM_000350.3(ABCA4):c.5196+1G>A SNV Pathogenic 99351 rs61751377 GRCh37: 1:94485137-94485137
GRCh38: 1:94019581-94019581
16 ABCA4 NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) SNV Pathogenic 236106 rs746541266 GRCh37: 1:94497591-94497591
GRCh38: 1:94032035-94032035
17 ABCA4 NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) SNV Pathogenic 236080 rs886044725 GRCh37: 1:94544209-94544209
GRCh38: 1:94078653-94078653
18 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic 99224 rs1801269 GRCh37: 1:94506901-94506901
GRCh38: 1:94041345-94041345
19 ABCA4 NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) SNV Pathogenic 99211 rs61751398 GRCh37: 1:94508386-94508386
GRCh38: 1:94042830-94042830
20 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
21 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic 225010 rs768933093 GRCh37: 12:76741994-76741994
GRCh38: 12:76348214-76348214
22 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic 92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
23 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) Deletion Pathogenic 2351 rs80338903 GRCh37: 1:216420437-216420437
GRCh38: 1:216247095-216247095
24 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic 7904 rs61750130 GRCh37: 1:94496666-94496666
GRCh38: 1:94031110-94031110
25 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
26 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic 7907 rs61751383 GRCh37: 1:94471056-94471056
GRCh38: 1:94005500-94005500
27 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic 7882 rs61751408 GRCh37: 1:94471065-94471065
GRCh38: 1:94005509-94005509
28 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic 92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
29 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 GRCh37: 1:94564350-94564350
GRCh38: 1:94098794-94098794
30 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic 7898 rs61750200 GRCh37: 1:94564484-94564484
GRCh38: 1:94098928-94098928
31 ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) SNV Pathogenic 99114 rs61749423 GRCh37: 1:94526212-94526212
GRCh38: 1:94060656-94060656
32 ABCA4 NM_000350.3(ABCA4):c.5714+5G>A SNV Pathogenic 99403 rs61751407 GRCh37: 1:94476351-94476351
GRCh38: 1:94010795-94010795
33 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
34 ABCA4 NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) SNV Pathogenic 99067 rs61751392 GRCh37: 1:94528806-94528806
GRCh38: 1:94063250-94063250
35 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic 99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
36 ABCA4 NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) SNV Pathogenic 99283 rs61750145 GRCh37: 1:94495083-94495083
GRCh38: 1:94029527-94029527
37 ABCA4 NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) SNV Likely pathogenic 99373 rs61753029 GRCh37: 1:94480146-94480146
GRCh38: 1:94014590-94014590
38 CNGA3 NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) SNV Likely pathogenic 9481 rs104893620 GRCh37: 2:99012462-99012462
GRCh38: 2:98395999-98395999
39 ABCA4 NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) SNV Likely pathogenic 92867 rs61750120 GRCh37: 1:94508323-94508323
GRCh38: 1:94042767-94042767
40 ABCA4 NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) SNV Likely pathogenic 236142 rs752147871 GRCh37: 1:94473253-94473253
GRCh38: 1:94007697-94007697
41 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Likely pathogenic 99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
42 ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) SNV Likely pathogenic 99108 rs61749420 GRCh37: 1:94526296-94526296
GRCh38: 1:94060740-94060740
43 ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) SNV Likely pathogenic 99284 rs61750146 GRCh37: 1:94495078-94495078
GRCh38: 1:94029522-94029522
44 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Likely pathogenic 7888 rs1800553 GRCh37: 1:94473807-94473807
GRCh38: 1:94008251-94008251
45 ABCA4 NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) SNV Likely pathogenic 236100 rs756840095 GRCh37: 1:94508353-94508353
GRCh38: 1:94042797-94042797
46 ABCA4 NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) SNV Likely pathogenic 99213 rs61752417 GRCh37: 1:94508373-94508373
GRCh38: 1:94042817-94042817
47 ABCA4 NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) SNV Likely pathogenic 236144 rs886044758 GRCh37: 1:94471067-94471067
GRCh38: 1:94005511-94005511
48 ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) SNV Likely pathogenic 99070 rs61748558 GRCh37: 1:94528780-94528780
GRCh38: 1:94063224-94063224
49 ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) SNV Likely pathogenic 99113 rs62654397 GRCh37: 1:94577093-94577093
GRCh38: 1:94111537-94111537
50 ABCA4 NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) SNV Likely pathogenic 373916 rs1057518767 GRCh37: 1:94564430-94564430
GRCh38: 1:94098874-94098874

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

72
# 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 11.09 CFHR3 CFHR2 CFHR1 CFH
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 region GO:0005576 9.81 VEGFB VEGFA USH2A HMCN1 CFHR3 CFHR2
2 photoreceptor inner segment GO:0001917 9.13 USH2A PRPH2 ARMS2
3 blood microparticle GO:0072562 8.92 CFHR3 CFHR1 CFH APOE

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

# Name GO ID Score Top Affiliating Genes
1 regulation of complement activation GO:0030449 9.63 CFHR2 CFHR1 CFH
2 response to stimulus GO:0050896 9.56 USH2A PRPH2 HMCN1 CRYAA CNGA3 BEST1
3 photoreceptor cell maintenance GO:0045494 9.46 USH2A ERCC6 BBS10 ABCA4
4 eye photoreceptor cell development GO:0042462 9.43 VEGFA FSCN2
5 vascular endothelial growth factor signaling pathway GO:0038084 9.4 VEGFB VEGFA
6 induction of positive chemotaxis GO:0050930 9.37 VEGFB VEGFA
7 cytolysis by host of symbiont cells GO:0051838 9.32 CFHR2 CFHR1
8 visual perception GO:0007601 9.28 USH2A PRPH2 HMCN1 FSCN2 CRYAA CNGA3
9 positive regulation of mast cell chemotaxis GO:0060754 9.26 VEGFB VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.46 VEGFB VEGFA CFH APOE
2 heparan sulfate proteoglycan binding GO:0043395 9.32 CFH APOE
3 identical protein binding GO:0042802 9.28 VEGFB VEGFA USH2A CRYAA CFHR2 CFHR1
4 vascular endothelial growth factor receptor binding GO:0005172 9.26 VEGFB VEGFA
5 vascular endothelial growth factor receptor 1 binding GO:0043183 8.96 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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