ARMD1
MCID: MCL042
MIFTS: 82

Macular Degeneration, Age-Related, 1 (ARMD1)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Macular Degeneration, Age-Related, 1

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

Name: Macular Degeneration, Age-Related, 1 57 73 36 71
Macular Degeneration 39 11 75 28 5 41 43 14 16 71
Age-Related Macular Degeneration 11 42 28 5 63 16 33
Age Related Macular Degeneration 1 11 28 5 14
Macular Degeneration, Age-Related 57 42 75 38
Age Related Macular Degeneration 39 11 14 71
Armd1 57 11 73
Macular Degeneration, Age-Related, 1, Susceptibility to 5
Macular Degeneration, Age-Related, Reduced Risk of 57
Age-Related Maculopathy, Susceptibility to 12
Macular Degeneration, Age-Related, Type 1 38
Macular Degeneration, Age-Related, 2 71
Senile Macular Retinal Degeneration 11
Macular Degeneration of Retina 11
Maculopathy, Age-Related, 1 57
Senile Macular Degeneration 11
Age Related Maculopathy 1 11
Age Related Maculopathies 11
Maculopathy, Age-Related 5
Age Related Maculopathy 11
Age-Related Maculopathy 42
Maculopathy Age-Related 53
Armd 42
Amd 42

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
earliest symptom onset in sixth decade of life
diagnosis in seventh decade of life


Classifications:



External Ids:

Disease Ontology 11 DOID:0110014 DOID:10871 DOID:4448
OMIM® 57 603075
OMIM Phenotypic Series 57 PS603075
ICD9CM 34 362.50
MeSH 43 D008268
SNOMED-CT 68 18222007 302891003
MedGen 40 C1864205
SNOMED-CT via HPO 69 247154004 422338006
UMLS 71 C0024437 C0242383 C1864205 more

Summaries for Macular Degeneration, Age-Related, 1

MedlinePlus Genetics: 42 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, 4 and retinoschisis 1, x-linked, juvenile, 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 is Complement cascade. The drugs Nepafenac and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are macular hemorrhage and macular degeneration

MedlinePlus: 41 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

PubMed Health : 63 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.

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 08-Dec-2022)

Disease Ontology 11 Age related macular degeneration 1: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.

Age related macular degeneration: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.

Macular degeneration: 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.

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 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, 3 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 897)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 4 33.6 ELOVL4 CFH CFB BEST1 APOE ABCA4
2 retinoschisis 1, x-linked, juvenile 32.8 PRPH2 CNGA3 BEST1 ABCA4
3 fundus albipunctatus 32.5 PRPH2 ELOVL4 BEST1 ABCA4
4 stargardt disease 3 32.5 ELOVL4 ABCA4
5 stargardt disease 1 32.5 PRPH2 BEST1 ABCA4
6 patterned macular dystrophy 32.4 PRPH2 BEST1
7 kuhnt-junius degeneration 32.3 VEGFA CRYAA CFHR2 CFH CFB ARMS2
8 macular dystrophy, dominant cystoid 32.1 VEGFA BEST1 ABCA4
9 eye disease 32.1 VEGFA TIMP3 PRPH2 HMCN1 ERCC6 ELOVL4
10 choroiditis 31.9 VEGFA CFH CFB ARMS2
11 angioid streaks 31.8 VEGFA CFH ARMS2
12 glaucoma, primary open angle 31.8 VEGFA CRYAA ABCA4
13 retinal degeneration 31.8 TIMP3 PRPH2 FSCN2 ELOVL4 CRYAA CFHR2
14 retinal disease 31.7 VEGFA PRPH2 ERCC6 CRYAA CFHR2 CFH
15 cone-rod dystrophy 2 31.7 VEGFA TIMP3 PRPH2 FSCN2 ELOVL4 CRYAA
16 leber plus disease 31.6 VEGFA PRPH2 FSCN2 ELOVL4 CRYAA CNGA3
17 microvascular complications of diabetes 5 31.6 VEGFA TIMP3 CRYAA
18 macular retinal edema 31.5 VEGFA BEST1 ABCA4
19 retinal perforation 31.5 VEGFA CRYAA
20 degeneration of macula and posterior pole 31.4 VEGFA TIMP3 PRPH2 ERCC6 ELOVL4 CRYAA
21 melanoma, uveal 31.4 VEGFA TIMP3 ERCC6 CRYAA
22 macular dystrophy, vitelliform, 3 31.4 PRPH2 BEST1
23 color blindness 31.4 PRPH2 CRYAA CNGA3 ABCA4
24 fundus dystrophy 31.4 VEGFA TIMP3 PRPH2 HMCN1 FSCN2 ERCC6
25 scotoma 31.3 VEGFA PRPH2 CNGA3 ABCA4
26 eye degenerative disease 31.3 VEGFA PRPH2 ERCC6 ELOVL4 CRYAA CNGA3
27 cataract 31.3 VEGFA ERCC6 CRYAA BEST1 APOE
28 peripheral retinal degeneration 31.3 CNGA3 ABCA4
29 retinitis pigmentosa 31.2 VEGFA TIMP3 PRPH2 MT-TL1 FSCN2 ERCC6
30 bestrophinopathy, autosomal recessive 31.2 PRPH2 BEST1 ABCA4
31 retinal drusen 31.2 TIMP3 PRPH2 HMCN1 ERCC6 ELOVL4 CFHR2
32 cone dystrophy 31.1 PRPH2 ELOVL4 CRYAA CNGA3 BEST1 BBS10
33 hereditary retinal dystrophy 31.1 TIMP3 PRPH2 ELOVL4 CFHR2 BEST1 ABCA4
34 cone-rod dystrophy 3 31.1 CRYAA ABCA4
35 malignant hypertension 31.1 CFHR3 CFHR2 CFHR1 CFH CFB
36 complement deficiency 31.1 CFHR3 CFHR2 CFHR1 CFH CFB
37 stargardt disease 31.1 PRPH2 ELOVL4 CNGA3 CFH BEST1 ARMS2
38 central retinal artery occlusion 31.0 VEGFA CRYAA
39 doyne honeycomb retinal dystrophy 31.0 TIMP3 PRPH2 HMCN1 ERCC6 ELOVL4 CFHR2
40 choroideremia 31.0 PRPH2 CNGA3 BEST1 ABCA4
41 pseudoxanthoma elasticum 31.0 VEGFA TIMP3 CFH ABCA4
42 keratitis, hereditary 31.0 VEGFA ERCC6 CRYAA BEST1
43 leber hereditary optic neuropathy, modifier of 31.0 MT-TL1 CRYAA CNGA3 ABCA4
44 optic nerve disease 31.0 VEGFA MT-TL1 ERCC6 CRYAA
45 progressive cone dystrophy 31.0 PRPH2 CNGA3 ABCA4
46 occult macular dystrophy 31.0 PRPH2 CNGA3 ABCA4
47 hemolytic uremic syndrome, atypical 1 31.0 CFHR3 CFHR2 CFHR1 CFH CFB
48 basal laminar drusen 31.0 TIMP3 PRPH2 HMCN1 CFH CFB BEST1
49 exotropia 31.0 ERCC6 CRYAA ABCA4
50 achromatopsia 31.0 PRPH2 CRYAA CNGA3 BEST1 ABCA4

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:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macular hemorrhage 30 Occasional (7.5%) HP:0025574
2 macular degeneration 30 Very rare (1%) HP:0000608
3 choroidal neovascularization 30 Very rare (1%) HP:0011506
4 macular drusen 30 Very rare (1%) HP:0030499
5 geographic atrophy 30 Very rare (1%) HP:0031609
6 progressive visual loss 30 HP:0000529
7 foveal hypopigmentation 30 HP:0012643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Symptoms:

11
  • 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 pigmentation MP:0001186 9.7 ABCA4 APOE BEST1 CFH ELOVL4 PRPH2
2 nervous system MP:0003631 9.7 ABCA4 APOE BBS10 CFH CNGA3 ELOVL4
3 vision/eye MP:0005391 9.47 ABCA4 APOE BBS10 BEST1 CFH CNGA3

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

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

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

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

(show top 50) (show all 311)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
2
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
3
Lactitol Approved, Investigational Phase 4 585-86-4 157355
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
6
Temazepam Approved, Investigational Phase 4 846-50-4 5391
7
Povidone-iodine Approved Phase 4 25655-41-8
8
Iodine Approved, Investigational Phase 4 7553-56-2 807
9
Povidone K30 Approved, Experimental, Withdrawn Phase 4 9003-39-8 6917 131751496
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
13
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
14
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
15
Cianidanol Approved, Withdrawn Phase 4 154-23-4 9064
16
Tocopherol Approved, Investigational Phase 4 1406-66-2
17
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
18
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
19
Ascorbic acid Approved, Nutraceutical Phase 4 50-81-7 54676860 54670067 5785
20
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 5281243
21
Cadexomer iodine Experimental Phase 4 94820-09-4
22
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
23
Epicatechin Investigational Phase 4 490-46-0 58571364 72276
24
Theobromine Investigational Phase 4 83-67-0 5429
25
Tocotrienol Investigational Phase 4 6829-55-6 9929901
26 Lubricant Eye Drops Phase 4
27 Cathartics Phase 4
28 Carboxymethylcellulose Sodium Phase 4
29 Laxatives Phase 4
30 Pharmaceutical Solutions Phase 4
31 Anti-Infective Agents Phase 4
32 Cyclooxygenase Inhibitors Phase 4
33 Anesthetics Phase 4
34 Pyranoprofen Phase 4
35 Tocolytic Agents Phase 4
36 Anti-Anxiety Agents Phase 4
37 Psychotropic Drugs Phase 4
38 Hypnotics and Sedatives Phase 4
39 GABA Modulators Phase 4
40 Blood Substitutes Phase 4
41 Anti-Infective Agents, Local Phase 4
42 Disinfectants Phase 4
43 Plasma Substitutes Phase 4
44 Protective Agents Phase 4
45
Methylprednisolone Acetate Phase 4 584547
46 Neuroprotective Agents Phase 4
47 Omega 3 Fatty Acid Phase 4
48 Vitamins Phase 4
49 Tocotrienols Phase 4
50 Tocopherols Phase 4

Interventional clinical trials:

(show top 50) (show all 1289)
# 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 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
3 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
4 Rationalization of the Systemic Treatment of Age-related Macular Degeneration With Rheohemapheresis (RHF) Unknown status NCT01943396 Phase 4
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 Efficacy of Ranibizumab (Lucentis) in Combination With Photodynamic Therapy for Neovascular Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab
7 A Multicenter Study Comparing Efficacy and Safety of " Treat-and-Extend" Regimen Versus "Pro Re Nata" Regimen of Conbercept in Neovascular Age-related Macular Degeneration Unknown status NCT02802657 Phase 4 Conbercept
8 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)
9 Two-week Retreatment Interval Study for Treated Age-related Macular Degeneration Refractory to Monthly Aflibercept Unknown status NCT03468296 Phase 4 Intravitreal Aflibercept Injection 2mg
10 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
11 Intraocular Cytokine Changes in Recurrence of Polypoidal Choroidal Vasculopathy Unknown status NCT02976194 Phase 4 ranibizumab
12 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)
13 On-label tReatment With Intravitreal Aflibercept Injection for Patients With Persistent Pigment Epithelial Detachments in Neovascular AMD. Unknown status NCT01670162 Phase 4 Aflibercept
14 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
15 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
16 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
17 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
18 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
19 The IAI-OCTA Study or; Microvascular Structure and Morphology of Neovascular Membranes in Age Related Macular Degeneration (AMD) After Intravitreal Aflibercept Injection (IAI) Therapy Using OCT-Angiography Analysis Completed NCT03022292 Phase 4 Aflibercept Ophthalmic
20 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
21 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
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 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
24 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)
25 A Randomised Controlled Trial of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
26 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
27 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
28 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
29 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
30 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
31 Efficacy of Fixed Monthly Dosing of Lucentis® (Ranibizumab) on Subretinal Fluid (SRF) Associated With Persistent Pigment Epithelial Detachment (PED) in Neovascular Age-related Macular Degeneration (AMD): A Pilot Study Completed NCT02944227 Phase 4 Lucentis
32 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
33 FUSION Regimen: A Disease Activity Guided Treatment Algorithm With Ranibizumab in naïve Subjects With Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
34 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
35 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
36 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
37 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
38 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
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 Treatment of Exudative Age-Related Macular Degeneration With Aflibercept Combined With Pranoprofen Eye Drops or Nutraceutical Support With Omega-3: A Randomized Trial Completed NCT03355638 Phase 4 Aflibercept Injection [Eylea];Pranoprofen Eyedrops;Omega-3 Supplementation
41 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
42 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
43 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
44 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
45 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
46 Managing Neovascular Age-related Macular Degeneration (nAMD) Over 2 Years With a Treat and Extend (T&E) Regimen of 2 mg Intravitreal Aflibercept - a Randomized, Open-label, Active-controlled, Parallel-group Phase IV/IIIb Study (ARIES) Completed NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
47 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
48 Time Course of Activity Signs at High Resolution OCT During OCT-guided High Frequency Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Age Related Macular Degeneration Completed NCT03393767 Phase 4 Ranibizumab
49 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
50 A Randomised Controlled Trial of Epimacular Brachytherapy Versus Ranibizumab Monotherapy for the Treatment of Subfoveal Choroidal Neovascularisation Associated With Wet Age-related Macular Degeneration in Patients Who Have Commenced Anti-VEGF Therapy Completed NCT01006538 Phase 4 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 28
2 Age Related Macular Degeneration 1 28 APOE CFHR1 CFHR3 HMCN1
3 Macular Degeneration 28

Anatomical Context for Macular Degeneration, Age-Related, 1

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

MalaCards : Eye, Retina, Bone Marrow, Endothelial, 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 24696)
# Title Authors PMID Year
1
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 62 57 5
25986072 2015
2
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). 62 57 5
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. 62 57 5
14570714 2003
4
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. 62 57 5
9715689 1998
5
Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy. 53 62 57
12547700 2003
6
The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. 62 57
26383995 2015
7
The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals. 62 57
26298717 2015
8
Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity. 62 57
25414314 2014
9
Seven new loci associated with age-related macular degeneration. 62 57
23455636 2013
10
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. 62 57
22484808 2012
11
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. 62 57
22541070 2012
12
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 62 57
21909106 2011
13
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. 62 57
21297615 2011
14
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 62 5
20843825 2010
15
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. 62 57
20087399 2010
16
CCR3 is a target for age-related macular degeneration diagnosis and therapy. 62 57
19525930 2009
17
A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD. 62 57
19450445 2009
18
Geographic atrophy in age-related macular degeneration and TLR3. 62 57
19469038 2009
19
Geographic atrophy in age-related macular degeneration and TLR3. 62 57
19469037 2009
20
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. 62 57
18753640 2008
21
Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. 62 57
18368052 2008
22
Progress in defining the molecular biology of age related macular degeneration. 62 57
17659362 2007
23
Genetics of pigment changes and geographic atrophy. 62 57
17591865 2007
24
Clinical characteristics of exudative age-related macular degeneration in Japanese patients. 62 57
17509509 2007
25
Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study. 62 57
17275090 2007
26
Cigarette smoking and age-related macular degeneration in the EUREYE Study. 62 57
17337063 2007
27
Human retinal pigment epithelium cell changes and expression of alphaB-crystallin: a biomarker for retinal pigment epithelium cell change in age-related macular degeneration. 62 57
17502503 2007
28
Scavenger receptors for oxidized lipoprotein in age-related macular degeneration. 62 57
17389514 2007
29
Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. 62 57
17280640 2007
30
Estimation of systemic complement C3 activity in age-related macular degeneration. 62 57
17420372 2007
31
Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study. 62 57
17386278 2007
32
High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women. 62 57
17353399 2007
33
Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study. 62 57
17325139 2007
34
Serum dehydroepiandrosterone sulphate level in age-related macular degeneration. 62 57
17157799 2007
35
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 62 5
17251446 2007
36
Risk factors for age-related maculopathy are associated with a relative lack of macular pigment. 62 57
17083932 2007
37
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 62 5
16998489 2006
38
Age-related macular degeneration. 62 57
17021323 2006
39
Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. 62 57
16844785 2006
40
The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration. 62 57
16639025 2006
41
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 62 5
16280978 2005
42
Susceptibility genes for age-related maculopathy on chromosome 10q26. 62 57
16080115 2005
43
Smoking and age-related macular degeneration: a review of association. 62 57
16151432 2005
44
Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. 62 57
16079201 2005
45
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. 62 57
15882908 2005
46
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. 62 57
16020313 2005
47
Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers. 62 57
15955978 2005
48
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. 62 57
15860286 2005
49
Association of HLA class I and class II polymorphisms with age-related macular degeneration. 62 57
15851575 2005
50
Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration. 62 57
15728529 2005

Variations for Macular Degeneration, Age-Related, 1

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

5 (show top 50) (show all 764)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HMCN1 NM_031935.3(HMCN1):c.4163del (p.Pro1388fs) DEL Pathogenic
217863 rs879255520 GRCh37: 1:185970522-185970522
GRCh38: 1:186001390-186001390
2 ABCA4 NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) DEL Pathogenic
636147 rs1571264574 GRCh37: 1:94496583-94496583
GRCh38: 1:94031027-94031027
3 ABCA4 NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) DUP Pathogenic
374183 rs1057518955 GRCh37: 1:94485158-94485159
GRCh38: 1:94019602-94019603
4 ABCA4 NM_000350.3(ABCA4):c.5977del (p.Ser1993fs) DEL Pathogenic
930749 rs1659426620 GRCh37: 1:94473218-94473218
GRCh38: 1:94007662-94007662
5 ABCA4 NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) SNV Pathogenic
Likely Pathogenic
373916 rs1057518767 GRCh37: 1:94564430-94564430
GRCh38: 1:94098874-94098874
6 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV Pathogenic
99460 rs61750654 GRCh37: 1:94466426-94466426
GRCh38: 1:94000870-94000870
7 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV Pathogenic
99083 rs55732384 GRCh37: 1:94577117-94577117
GRCh38: 1:94111561-94111561
8 ABCA4 NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) SNV Pathogenic
99217 rs62645946 GRCh37: 1:94586570-94586570
GRCh38: 1:94121014-94121014
9 ABCA4 NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) SNV Pathogenic
99278 rs61750142 GRCh37: 1:94496008-94496008
GRCh38: 1:94030452-94030452
10 ABCA4 NM_000350.3(ABCA4):c.4571del (p.Asp1524fs) DEL Pathogenic
1685486 GRCh37: 1:94490573-94490573
GRCh38: 1:94025017-94025017
11 ABCA4 NM_000350.3(ABCA4):c.2919-2A>G SNV Pathogenic
1685487 GRCh37: 1:94510302-94510302
GRCh38: 1:94044746-94044746
12 ABCA4 NM_000350.3(ABCA4):c.5655del (p.Val1887fs) DEL Pathogenic
851220 rs1659524475 GRCh37: 1:94476415-94476415
GRCh38: 1:94010859-94010859
13 ABCA4 NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) SNV Pathogenic
417994 rs1064793014 GRCh37: 1:94473263-94473263
GRCh38: 1:94007707-94007707
14 ABCA4 NM_000350.3(ABCA4):c.67-2A>G SNV Pathogenic
92871 rs398123339 GRCh37: 1:94578624-94578624
GRCh38: 1:94113068-94113068
15 ABCA4 NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile) SNV Pathogenic
1402951 GRCh37: 1:94526246-94526246
GRCh38: 1:94060690-94060690
16 ABCA4 NM_000350.3(ABCA4):c.2587+1G>A SNV Pathogenic
99147 rs61749439 GRCh37: 1:94520666-94520666
GRCh38: 1:94055110-94055110
17 FSCN2 NM_012418.4(FSCN2):c.72del (p.Thr25fs) DEL Pathogenic
2945 rs376633374 GRCh37: 17:79495629-79495629
GRCh38: 17:81528603-81528603
18 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic
99431 rs61753038 GRCh37: 1:94471026-94471026
GRCh38: 1:94005470-94005470
19 overlap with 2 genes NC_000001.10:g.(196722206_?)_(?_196808505)del DEL Pathogenic
5065 GRCh37: 1:196722206-196808505
GRCh38: 1:196753076-196839375
20 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic
99505 rs62645944 GRCh37: 1:94564350-94564350
GRCh38: 1:94098794-94098794
21 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic
7898 rs61750200 GRCh37: 1:94564484-94564484
GRCh38: 1:94098928-94098928
22 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic
225010 rs768933093 GRCh37: 12:76741994-76741994
GRCh38: 12:76348214-76348214
23 ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) SNV Pathogenic
99114 rs61749423 GRCh37: 1:94526212-94526212
GRCh38: 1:94060656-94060656
24 ABCA4 NM_000350.3(ABCA4):c.5196+1G>A SNV Pathogenic
99351 rs61751377 GRCh37: 1:94485137-94485137
GRCh38: 1:94019581-94019581
25 ABCA4 NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) SNV Pathogenic
99283 rs61750145 GRCh37: 1:94495083-94495083
GRCh38: 1:94029527-94029527
26 ABCA4 NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) SNV Pathogenic
236106 rs746541266 GRCh37: 1:94497591-94497591
GRCh38: 1:94032035-94032035
27 ABCA4 NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) SNV Pathogenic
236080 rs886044725 GRCh37: 1:94544209-94544209
GRCh38: 1:94078653-94078653
28 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic
Pathogenic
7882 rs61751408 GRCh37: 1:94471065-94471065
GRCh38: 1:94005509-94005509
29 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) DEL Pathogenic
99419 rs61751389 GRCh37: 1:94473278-94473278
GRCh38: 1:94007722-94007722
30 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic
Pathogenic
99224 rs1801269 GRCh37: 1:94506901-94506901
GRCh38: 1:94041345-94041345
31 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic
7907 rs61751383 GRCh37: 1:94471056-94471056
GRCh38: 1:94005500-94005500
32 ABCA4 NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) SNV Pathogenic
99303 rs61750152 GRCh37: 1:94490567-94490567
GRCh38: 1:94025011-94025011
33 ABCA4 NM_000350.3(ABCA4):c.1937+1G>A SNV Pathogenic
99104 rs61752401 GRCh37: 1:94528132-94528132
GRCh38: 1:94062576-94062576
34 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic
9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
35 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic
Pathogenic
92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
36 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic
7904 rs61750130 GRCh37: 1:94496666-94496666
GRCh38: 1:94031110-94031110
37 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic
Pathogenic
7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
38 ABCA4 NM_000350.3(ABCA4):c.5714+5G>A SNV Pathogenic
99403 rs61751407 GRCh37: 1:94476351-94476351
GRCh38: 1:94010795-94010795
39 ABCA4 NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) SNV Pathogenic
99067 rs61751392 GRCh37: 1:94528806-94528806
GRCh38: 1:94063250-94063250
40 ABCA4 NM_000350.3(ABCA4):c.5312+1G>A SNV Pathogenic
236128 rs886044750 GRCh37: 1:94481294-94481294
GRCh38: 1:94015738-94015738
41 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic
Likely Pathogenic
99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
42 ABCA4 NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) SNV Pathogenic
99211 rs61751398 GRCh37: 1:94508386-94508386
GRCh38: 1:94042830-94042830
43 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Pathogenic/Likely Pathogenic
7888 rs1800553 GRCh37: 1:94473807-94473807
GRCh38: 1:94008251-94008251
44 ABCA4 NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) SNV Likely Pathogenic
92867 rs61750120 GRCh37: 1:94508323-94508323
GRCh38: 1:94042767-94042767
45 ABCA4 NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) SNV Likely Pathogenic
812194 rs1571242070 GRCh37: 1:94466558-94466558
GRCh38: 1:94001002-94001002
46 ABCA4 NM_000350.3(ABCA4):c.6729+5_6729+19del DEL Likely Pathogenic
283573 rs749526785 GRCh37: 1:94463398-94463412
GRCh38: 1:93997842-93997856
47 ABCA4 NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) SNV Likely Pathogenic
99373 rs61753029 GRCh37: 1:94480146-94480146
GRCh38: 1:94014590-94014590
48 CNGA3 NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) SNV Likely Pathogenic
9481 rs104893620 GRCh37: 2:99012462-99012462
GRCh38: 2:98395999-98395999
49 ABCA4 NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) SNV Likely Pathogenic
236100 rs756840095 GRCh37: 1:94508353-94508353
GRCh38: 1:94042797-94042797
50 ABCA4 NM_000350.3(ABCA4):c.5196+1056A>G SNV Likely Pathogenic
236127 rs886044749 GRCh37: 1:94484082-94484082
GRCh38: 1:94018526-94018526

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:

6
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 CFHR3 CFHR2 CFHR1 CFH CFB

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 blood microparticle GO:0072562 9.32 CFHR3 CFHR1 CFH CFB APOE

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 TIMP3 PRPH2 HMCN1 CRYAA CNGA3 BEST1
2 photoreceptor cell maintenance GO:0045494 9.73 ERCC6 BBS10 ABCA4
3 complement activation GO:0006956 9.65 CFB CFH CFHR1 CFHR2 CFHR3
4 cytolysis by host of symbiont cells GO:0051838 9.62 CFHR2 CFHR1
5 visual perception GO:0007601 9.58 TIMP3 PRPH2 HMCN1 FSCN2 CRYAA CNGA3

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

# Name GO ID Score Top Affiliating Genes
1 complement component C3b binding GO:0001851 9.23 CFHR3 CFHR2 CFHR1 CFH

Sources for Macular Degeneration, Age-Related, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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