ARMD1
MCID: MCL042
MIFTS: 88

Macular Degeneration, Age-Related, 1 (ARMD1)

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

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

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

Name: Macular Degeneration, Age-Related, 1 57 74 38 72
Macular Degeneration 41 12 75 53 29 6 43 44 15 17 72
Age-Related Macular Degeneration 12 53 25 37 29 6 63 17
Macular Degeneration, Age-Related 57 75 25 40
Age Related Macular Degeneration 41 12 15 72
Armd1 57 12 74
Age Related Macular Degeneration 1 12 15
Age-Related Macular Degeneration 1 29 6
Age-Related Maculopathy 53 25
Amd 53 25
Macular Degeneration, Age-Related, 1, Susceptibility to 6
Macular Degeneration, Age-Related, Reduced Risk of 57
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, Type 1 40
Macular Degeneration, Age-Related, 2 72
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
Age Related Maculopathy 12
Maculopathy Age-Related 55
Armd 25
Arm 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110014 DOID:10871 DOID:4448
KEGG 37 H00821
ICD9CM 35 362.50
MeSH 44 D008268
SNOMED-CT 68 18222007
ICD10 33 H35.30
MedGen 42 C1864205
UMLS 72 C0024437 C0242383 C1864205 more

Summaries for Macular Degeneration, Age-Related, 1

Genetics Home Reference : 25 Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends 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 reduced dim light (scotopic) vision often occurs 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 condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition 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.

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to kuhnt-junius degeneration and yemenite deaf-blind hypopigmentation syndrome, 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 Creation of C4 and C2 activators and Immune response Lectin induced complement pathway. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are macular hemorrhage and choroidal neovascularization

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

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

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

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

KEGG : 37
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 : 74 Macular degeneration, age-related, 1: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

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

Wikipedia : 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, 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 588)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 32.4 VEGFB VEGFA CFH CFB ARMS2
2 yemenite deaf-blind hypopigmentation syndrome 32.4 VEGFA CFH ABCA4
3 choroiditis 32.0 CFH CFB ARMS2
4 multifocal choroiditis 31.9 CFH CFB ARMS2
5 c3 glomerulopathy 31.8 CFHR3 CFHR1 CFB
6 retinal disease 31.7 CFH CFB BEST1 ARMS2 ABCA4
7 dense deposit disease 31.6 CFHR2 CFH CFB
8 retinal drusen 31.3 FBLN5 EFEMP1 CFH CFB ARMS2
9 macular retinal edema 31.2 VEGFA BEST1
10 fundus dystrophy 31.2 TIMP3 EFEMP1 CNGA3 BEST1 BBS10 ABCA4
11 basal laminar drusen 31.2 HMCN1 FBLN5 CFH
12 hemolytic uremic syndrome, atypical 1 31.2 CFHR3 CFHR2 CFHR1 CFH CFB
13 histoplasmosis 31.0 CFH ARMS2
14 familial drusen 31.0 EFEMP1 CFH
15 central serous chorioretinopathy 30.9 CFH ARMS2
16 hemolytic-uremic syndrome 30.9 CFHR3 CFHR1 CFH CFB
17 complement factor h deficiency 30.9 CFHR1 CFH
18 vitreous detachment 30.9 VEGFA OPTC
19 peripheral retinal degeneration 30.8 TIMP3 BEST1
20 macular dystrophy, dominant cystoid 30.6 VEGFA BEST1
21 macular degeneration, age-related, 7 13.0
22 macular degeneration, age-related, 15 13.0
23 macular degeneration, age-related, 2 13.0
24 macular degeneration, age-related, 9 13.0
25 macular degeneration, age-related, 4 12.9
26 macular degeneration, age-related, 10 12.9
27 macular degeneration, age-related, 6 12.9
28 macular degeneration, age-related, 8 12.9
29 macular degeneration, age-related, 12 12.9
30 macular degeneration, age-related, 14 12.9
31 macular degeneration, x-linked atrophic 12.7
32 macular degeneration, early-onset 12.7
33 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.6
34 obsolete: disease predisposing to age-related macular degeneration 12.6
35 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features 12.4
36 neuropathy, hereditary, with or without age-related macular degeneration 12.4
37 juvenile macular degeneration and hypotrichosis 12.3
38 spinocerebellar ataxia 7 12.1
39 hypotrichosis, congenital, with juvenile macular dystrophy 11.8
40 macular dystrophy, vitelliform, 2 11.7
41 retinoschisis 1, x-linked, juvenile 11.6
42 glycogen storage disease ii 11.5
43 stargardt disease 3 11.5
44 stargardt disease 4 11.5
45 occult macular dystrophy 11.5
46 bestrophinopathy, autosomal recessive 11.3
47 hereditary sensorimotor neuropathy with hyperelastic skin 11.3
48 cystoid macular retinal degeneration 11.3
49 stargardt disease 1 11.3
50 adrenomyodystrophy 11.2

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macular hemorrhage 32 occasional (7.5%) HP:0025574
2 choroidal neovascularization 32 very rare (1%) HP:0011506
3 progressive visual loss 32 HP:0000529
4 macular degeneration 32 HP:0000608
5 foveal hypopigmentation 32 HP:0012643
6 macular drusen 32 HP:0030499
7 geographic atrophy 32 HP:0031609

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

603075

Symptoms:

12
  • vision loss

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


tremor, angina pectoris, equilibration disorder

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 ABCA4 APOE CFH EFEMP1 FBLN5 OPTC
2 adipose tissue MP:0005375 9.72 APOE BBS10 EFEMP1 ERCC6 VEGFB
3 pigmentation MP:0001186 9.63 ABCA4 APOE BEST1 CFH EFEMP1 TIMP3
4 renal/urinary system MP:0005367 9.5 APOE BBS10 CFB CFH EFEMP1 TIMP3
5 vision/eye MP:0005391 9.4 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 366)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
4
Copper Approved, Investigational Phase 4 7440-50-8 27099
5
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
6
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
7
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
8
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
9
Polyestradiol phosphate Approved Phase 4 28014-46-2
10
Ofloxacin Approved Phase 4 82419-36-1 4583
11
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
12
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
13
Eplerenone Approved Phase 4 107724-20-9 150310 443872
14
Dipivefrin Approved Phase 4 52365-63-6 3105
15
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
16
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
17
Povidone Approved Phase 4 9003-39-8
18
Iodine Approved, Investigational Phase 4 7553-56-2 807
19
Povidone-iodine Approved Phase 4 25655-41-8
20
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
21
Bevacizumab Approved, Investigational Phase 4 216974-75-3
22
Zinc Approved, Investigational Phase 4 7440-66-6 32051
23
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
24
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
25
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 6433159
26
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
28
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
29
Theobromine Investigational Phase 4 83-67-0 5429
30
Epicatechin Investigational Phase 4 35323-91-2, 490-46-0 72276
31 Tocotrienol Investigational Phase 4 6829-55-6
32 Antibodies, Monoclonal Phase 4
33 Antiemetics Phase 4
34 Gastrointestinal Agents Phase 4
35 HIV Protease Inhibitors Phase 4
36
protease inhibitors Phase 4
37 BB 1101 Phase 4
38 Anti-Bacterial Agents Phase 4
39 Anti-Infective Agents Phase 4
40 Antibiotics, Antitubercular Phase 4
41 Tocolytic Agents Phase 4
42 Vasodilator Agents Phase 4
43 Pyranoprofen Phase 4
44 Contraceptives, Oral Phase 4
45 Contraceptive Agents Phase 4
46 Contraceptives, Oral, Combined Phase 4
47 Norgestimate, ethinyl estradiol drug combination Phase 4
48 Topoisomerase Inhibitors Phase 4
49 Estradiol 3-benzoate Phase 4
50 Estradiol 17 beta-cypionate Phase 4

Interventional clinical trials:

(show top 50) (show all 1188)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Open Label, Multi-Center, Study of Maintenance Intravitreous Injections of Macugen (Pegaptanib Sodium) Given Every 6 Weeks for 48 Weeks in Subjects With Subfoveal Neovascular Age-Related Macular Degeneration (AMD) Initially Treated With a Modality Resulting in Maculopathy Improvement Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
2 Rationalization of the Systemic Treatment of Age-related Macular Degeneration With Rheohemapheresis (RHF) Unknown status NCT01943396 Phase 4
3 Pharmacogenetics in Anti-VEGF Treatment Non-responders Suffering Exudative Age-related Macular Degeneration (AMD): Genetic Correlations and Intraocular Cytokine Concentrations Unknown status NCT01213667 Phase 4 Ranibizumab
4 A 7-month, Multicenter Study to Evaluate the Efficacy of Intravitreal Injections of Aflibercept (EYLEA) 2mg /0.05 ml as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration (NVAMD). Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
5 Treat and Extend Therapy Using Intravitreal Aflibercept (IAI) for Previously Treated Patients Exiting the Wet Age-related Macular Degeneration Extension Study (0910) Unknown status NCT01961414 Phase 4 Aflibercept
6 A Multicenter Study Comparing Efficacy and Safety of " Treat-and-Extend" Regimen Versus PRN Regimen of Conbercept in Neovascular Age-related Macular Degeneration Unknown status NCT02802657 Phase 4 Conbercept
7 Clinical and Genetic Assessment of Treatment Response in Patients With Age-related Macular Degeneration Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
8 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
9 Efficacy of Ranibizumab (Lucentis) in Combination With Photodynamic Therapy for Neovascular Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
10 On-label tReatment With Intravitreal Aflibercept Injection for Patients With Persistent Pigment Epithelial Detachments in Neovascular AMD. Unknown status NCT01670162 Phase 4 Aflibercept
11 Comparison of Early Intervention of PDT Combination With Ranibizumab vs. Ranibizumab Monotherapy in Persistent PCV Patients With Initial Loading Dose Unknown status NCT02864472 Phase 4 Ranibizumab;ranibizumab PRN
12 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
13 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
14 An Open Label-study to Compare the Efficacy of Aflibercept Monotherapy for Polypoidal Choroidal Vasculopathy Using a Modified Intensive Treat and Extend Regime to a Fixed Dosing Regimen Unknown status NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
15 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
16 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
17 Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment Unknown status NCT02594423 Phase 4 Bevacizumab
18 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
19 A 24-month, Randomized, Double-masked, Controlled, Multicenter Study Evaluating the Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With Neovascular Age Related Macular Degeneration (AMD) Completed NCT01775124 Phase 4 Ranibizumab
20 A Prospective, Interventional Case Series, Effect of Lucentis on Indocyanine Angiographic Changes in Patients With Wet Age-related Macular Degeneration Completed NCT01810042 Phase 4 ranibizumab
21 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
22 Study of PRN and Every 2months Intravitreal Aflibercept After 3 Initial Monthly Injection for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
23 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
24 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
25 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
26 An Exploratory Single Site, Open Label, Randomized, Controlled Study to Evaluate Plasma Vascular Endothelial Growth Factor Levels After Intravitreal Injection of Ranibizumab (Lucentis) and Conbercept (Langmu) for nAMD Completed NCT02577107 Phase 4 ranibizumab;Conbercept
27 AflibercepT for Subjects Who Are Incomplete Responders to mUltiple Intravitreal Injections of Ranibizumab, Anti-VegF (The TURF Study) Completed NCT01543568 Phase 4 aflibercept 2.0 mg
28 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
29 A Phase IV, Long-term, Open-label, Multicenter Extension Study to Evaluate the Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization (CNV) Secondary to Age-related Macular Degeneration (AMD) Completed NCT00504959 Phase 4 ranibizumab
30 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
31 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
32 Size Progression of Non-Exudative Age-Related Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
33 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
34 The Effect of Intravitreal Aflibercept on Ocular Perfusion - a Pilot Study Completed NCT03804099 Phase 4 Aflibercept Injection [Eylea]
35 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)
36 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)
37 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
38 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
39 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
40 Intravitreal Ranibizumab in Patients With Retinal Pigment Epithelial Detachments Secondary to Age-related Macular Degeneration Completed NCT00976222 Phase 4 intravitreal injection with ranibizumab
41 Prospective Randomized Controlled Trial of Combination Ranibizumab and Indomethacin for Exudative Age-Related Macular Degeneration Completed NCT03261635 Phase 4 Ranibizumab Injection;Indomethacin
42 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
43 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
44 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
45 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
46 Combined Therapy in ARMD - Retrospective Case Series Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
47 A Prospective, Open-Label Multi Center Trial Evaluating The Safety And Efficacy Of 0.3 Mg/Eye Pegaptanib Sodium (Macugen) Intravitreous Injection Given Every 6 Weeks For 54 Weeks In Patients With Small Neovascular Age-Related Macular Degeneration (AMD) Lesions Completed NCT00324116 Phase 4 pegaptanib sodium (Macugen)
48 A Randomised Controlled Trial of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
49 FUSION Regimen: A Disease Activity Guided Treatment Algorithm With Ranibizumab in naïve Subjects With Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
50 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

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

Inferred drug relations via UMLS 72 / 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:

41
Eye, Endothelial, Retina, Testes, 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 18766)
# Title Authors PMID Year
1
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 38 8 71
25986072 2015
2
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). 38 8 71
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. 38 8 71
14570714 2003
4
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. 38 8 71
9715689 1998
5
The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. 38 8
26383995 2015
6
The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals. 38 8
26298717 2015
7
Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity. 38 8
25414314 2014
8
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 38 71
23972322 2013
9
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components. 38 8
22484808 2012
10
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. 38 8
22541070 2012
11
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 38 8
21909106 2011
12
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. 38 8
21297615 2011
13
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 38 71
20843825 2010
14
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. 38 8
20087399 2010
15
CCR3 is a target for age-related macular degeneration diagnosis and therapy. 38 8
19525930 2009
16
A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD. 38 8
19450445 2009
17
Geographic atrophy in age-related macular degeneration and TLR3. 38 8
19469037 2009
18
Geographic atrophy in age-related macular degeneration and TLR3. 38 8
19469038 2009
19
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. 38 8
18753640 2008
20
Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. 38 8
18368052 2008
21
Progress in defining the molecular biology of age related macular degeneration. 38 8
17659362 2007
22
Genetics of pigment changes and geographic atrophy. 38 8
17591865 2007
23
Clinical characteristics of exudative age-related macular degeneration in Japanese patients. 38 8
17509509 2007
24
Cigarette smoking and age-related macular degeneration in the EUREYE Study. 38 8
17337063 2007
25
Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study. 38 8
17275090 2007
26
Human retinal pigment epithelium cell changes and expression of alphaB-crystallin: a biomarker for retinal pigment epithelium cell change in age-related macular degeneration. 38 8
17502503 2007
27
Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. 38 8
17280640 2007
28
Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study. 38 8
17386278 2007
29
Estimation of systemic complement C3 activity in age-related macular degeneration. 38 8
17420372 2007
30
Scavenger receptors for oxidized lipoprotein in age-related macular degeneration. 38 8
17389514 2007
31
Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study. 38 8
17325139 2007
32
High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women. 38 8
17353399 2007
33
Serum dehydroepiandrosterone sulphate level in age-related macular degeneration. 38 8
17157799 2007
34
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 38 71
17251446 2007
35
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 38 71
16998489 2006
36
Age-related macular degeneration. 38 8
17021323 2006
37
Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. 38 8
16844785 2006
38
The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration. 38 8
16639025 2006
39
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 38 71
16280978 2005
40
Smoking and age-related macular degeneration: a review of association. 38 8
16151432 2005
41
Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. 38 8
16079201 2005
42
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. 38 8
15882908 2005
43
Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers. 38 8
15955978 2005
44
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. 38 8
16020313 2005
45
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. 38 8
15860286 2005
46
Association of HLA class I and class II polymorphisms with age-related macular degeneration. 38 8
15851575 2005
47
Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration. 38 8
15728529 2005
48
5-year incidence of age-related maculopathy in the Reykjavik Eye Study. 38 8
15629833 2005
49
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 38 8
15168325 2004
50
Current concepts in the pathogenesis of age-related macular degeneration. 38 8
15078679 2004

Variations for Macular Degeneration, Age-Related, 1

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

6 (show top 50) (show all 824)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFHR1 ; CFHR3 NC_000001.10: g.(196722206_?)_(?_196808505)del deletion Pathogenic,risk factor 1:196722206-196808505 1:196753076-196839375
2 ABCA4 NM_000350.3(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 1:94578624-94578624 1:94113068-94113068
3 ABCA4 NM_000350.3(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 1:94466426-94466426 1:94000870-94000870
4 HMCN1 NM_031935.3(HMCN1): c.4163del (p.Pro1388fs) deletion Pathogenic rs879255520 1:185970523-185970523 1:186001391-186001391
5 BBS10 NM_024685.4(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 12:76741994-76741994 12:76348214-76348214
6 CNGA3 NM_001079878.2(CNGA3): c.775C> T (p.Arg259Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 2:99012462-99012462 2:98395999-98395999
7 ABCA4 NM_000350.3(ABCA4): c.688T> A (p.Cys230Ser) single nucleotide variant Likely pathogenic rs1057518767 1:94564430-94564430 1:94098874-94098874
8 CFHR3 NM_021023.5(CFHR3): c.803G> T (p.Cys268Phe) single nucleotide variant Likely pathogenic rs745503234 1:196762453-196762453 1:196793323-196793323
9 HMCN1 NM_031935.3(HMCN1): c.16034A> G (p.Gln5345Arg) single nucleotide variant risk factor rs121434382 1:186147638-186147638 1:186178506-186178506
10 PRPH2 NM_000322.5(PRPH2): c.469G> A (p.Asp157Asn) single nucleotide variant Likely pathogenic rs61755787 6:42689604-42689604 6:42721866-42721866
11 ERCC6 NM_000124.4(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 10:50678722-50678722 10:49470676-49470676
12 FBLN5 NM_006329.3(FBLN5): c.604G> A (p.Gly202Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338765 14:92357580-92357580 14:91891236-91891236
13 ABCA4 NM_000350.3(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 1:94505604-94505604 1:94040048-94040048
14 ABCA4 NM_000350.3(ABCA4): c.1805G> A (p.Arg602Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61749410 1:94528265-94528265 1:94062709-94062709
15 ABCA4 NM_000350.3(ABCA4): c.1927G> A (p.Val643Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61749417 1:94528143-94528143 1:94062587-94062587
16 ABCA4 NM_000350.3(ABCA4): c.2690C> T (p.Thr897Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61749440 1:94514477-94514477 1:94048921-94048921
17 ABCA4 NM_000350.3(ABCA4): c.5603A> T (p.Asn1868Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs1801466 1:94476467-94476467 1:94010911-94010911
18 ABCA4 NM_000350.3(ABCA4): c.6255C> T (p.Leu2085=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748519 1:94467441-94467441 1:94001885-94001885
19 ABCA4 NM_000350.3(ABCA4): c.6320G> A (p.Arg2107His) single nucleotide variant Conflicting interpretations of pathogenicity rs62642564 1:94466624-94466624 1:94001068-94001068
20 ABCA4 NM_000350.3(ABCA4): c.6732G> A (p.Val2244=) single nucleotide variant Conflicting interpretations of pathogenicity rs77293072 1:94461749-94461749 1:93996193-93996193
21 ABCA4 NM_000350.3(ABCA4): c.71G> A (p.Arg24His) single nucleotide variant Conflicting interpretations of pathogenicity rs62645958 1:94578618-94578618 1:94113062-94113062
22 ABCA4 NM_000350.3(ABCA4): c.3285C> T (p.Tyr1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs570745701 1:94508360-94508360 1:94042804-94042804
23 ABCA4 NM_000350.3(ABCA4): c.3759G> A (p.Thr1253=) single nucleotide variant Conflicting interpretations of pathogenicity rs147884766 1:94502755-94502755 1:94037199-94037199
24 ABCA4 NM_000350.3(ABCA4): c.4771G> A (p.Gly1591Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113106943 1:94487404-94487404 1:94021848-94021848
25 HMCN1 NM_031935.3(HMCN1): c.114G> T (p.Gly38=) single nucleotide variant Conflicting interpretations of pathogenicity rs115169621 1:185704025-185704025 1:185734893-185734893
26 ERCC6 NM_000124.4(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 10:50678884-50678884 10:49470838-49470838
27 ERCC6 NM_000124.4(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 10:50690906-50690906 10:49482860-49482860
28 ERCC6 NM_000124.4(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 10:50708610-50708610 10:49500564-49500564
29 ERCC6 NM_000124.4(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 10:50732806-50732806 10:49524760-49524760
30 ERCC6 NM_000124.4(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 10:50690854-50690854 10:49482808-49482808
31 ABCA4 NM_000350.3(ABCA4): c.1654G> A (p.Val552Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145525174 1:94528774-94528774 1:94063218-94063218
32 FSCN2 NM_001077182.3(FSCN2): c.72del (p.Thr25fs) deletion Conflicting interpretations of pathogenicity rs376633374 17:79495629-79495629 17:81528603-81528603
33 C2 ; CFB NM_000063.6(C2): c.1360+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs140225293 6:31910877-31910877 6:31943100-31943100
34 ABCA4 NM_000350.3(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 1:94512602-94512602 1:94047046-94047046
35 ABCA4 NM_000350.3(ABCA4): c.6148G> C (p.Val2050Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41292677 1:94467548-94467548 1:94001992-94001992
36 C3 NM_000064.4(C3): c.1898A> G (p.Lys633Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140655115 19:6707888-6707888 19:6707877-6707877
37 C3 NM_000064.4(C3): c.3671G> A (p.Gly1224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs11569534 19:6686274-6686274 19:6686263-6686263
38 ABCA4 NM_000350.3(ABCA4): c.1614C> T (p.Ala538=) single nucleotide variant Conflicting interpretations of pathogenicity rs201602424 1:94528814-94528814 1:94063258-94063258
39 ABCA4 NM_000350.3(ABCA4): c.317A> T (p.Tyr106Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201150919 1:94574258-94574258 1:94108702-94108702
40 ERCC6 NM_000124.4(ERCC6): c.400C> T (p.Arg134Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148095899 10:50740611-50740611 10:49532565-49532565
41 FBLN5 NM_006329.3(FBLN5): c.268G> A (p.Gly90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144288844 14:92403402-92403402 14:91937058-91937058
42 FBLN5 NM_006329.3(FBLN5): c.376G> A (p.Val126Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61734479 14:92403294-92403294 14:91936950-91936950
43 ERCC6 NM_000124.4(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 10:50680422-50680422 10:49472376-49472376
44 ERCC6 NM_000124.4(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 10:50679030-50679030 10:49470984-49470984
45 ABCA4 NM_000350.3(ABCA4): c.2875A> G (p.Thr959Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs368846708 1:94512518-94512518 1:94046962-94046962
46 ABCA4 NM_000350.3(ABCA4): c.1532G> A (p.Arg511His) single nucleotide variant Conflicting interpretations of pathogenicity rs140482171 1:94543268-94543268 1:94077712-94077712
47 FBLN5 NM_006329.3(FBLN5): c.621T> C (p.Asp207=) single nucleotide variant Conflicting interpretations of pathogenicity rs200178859 14:92353655-92353655 14:91887311-91887311
48 ERCC6 NM_000124.4(ERCC6): c.2096C> T (p.Thr699Met) single nucleotide variant Conflicting interpretations of pathogenicity rs55698015 10:50690806-50690806 10:49482760-49482760
49 ERCC6 NM_000124.4(ERCC6): c.3650T> G (p.Phe1217Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760166 10:50678356-50678356 10:49470310-49470310
50 ABCA4 NM_000350.3(ABCA4): c.4925G> T (p.Ser1642Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs114518437 1:94486889-94486889 1:94021333-94021333

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

74
# 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 Chromosom Start End Type Gene Symbol CNVD Disease
1 26157 1 197500000 212100000 Copy number CFH Macular degeneration
2 26158 1 197500000 212100000 Copy number CFHR2 Macular degeneration
3 26159 1 197500000 212100000 Copy number CFHR5 Macular degeneration
4 26160 1 197500000 212100000 Copy number F13B Macular degeneration
5 39759 10 119100000 135374737 Copy number ARMS2 Macular degeneration
6 39760 10 119100000 135374737 Copy number HTRA1 Macular degeneration

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

GO Terms for Macular Degeneration, Age-Related, 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 VEGFB VEGFA TIMP3 FBLN5 EFEMP1 CFHR3
2 collagen-containing extracellular matrix GO:0062023 9.72 TIMP3 HMCN1 FBLN5 EFEMP1 APOE
3 blood microparticle GO:0072562 9.55 CFHR3 CFHR1 CFH CFB APOE
4 extracellular matrix GO:0031012 9.43 VEGFA TIMP3 OPTC FBLN5 EFEMP1 APOE
5 extracellular region GO:0005576 9.4 VEGFB VEGFA TIMP3 OPTC HMCN1 FBLN5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.67 VEGFB VEGFA TIMP3
2 response to stimulus GO:0050896 9.63 TIMP3 HMCN1 CNGA3 BEST1 BBS10 ABCA4
3 complement activation GO:0006956 9.61 CFHR1 CFH CFB
4 artery morphogenesis GO:0048844 9.51 VEGFA APOE
5 vascular endothelial growth factor signaling pathway GO:0038084 9.48 VEGFB VEGFA
6 induction of positive chemotaxis GO:0050930 9.46 VEGFB VEGFA
7 photoreceptor cell maintenance GO:0045494 9.43 ERCC6 BBS10 ABCA4
8 complement activation, alternative pathway GO:0006957 9.4 CFH CFB
9 positive regulation of cytolysis GO:0045919 9.37 CFHR2 CFHR1
10 positive regulation of mast cell chemotaxis GO:0060754 9.32 VEGFB VEGFA
11 regulation of complement activation GO:0030449 9.26 CFHR2 CFHR1 CFH CFB
12 visual perception GO:0007601 9.17 TIMP3 HMCN1 EFEMP1 CNGA3 BEST1 BBS10

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.5 OPTC HMCN1 EFEMP1
2 protein homodimerization activity GO:0042803 9.5 VEGFB VEGFA HMCN1 FBLN5 CFHR2 CFHR1
3 heparin binding GO:0008201 9.46 VEGFB VEGFA CFH APOE
4 vascular endothelial growth factor receptor 2 binding GO:0043184 8.96 VEGFA
5 vascular endothelial growth factor receptor 1 binding GO:0043183 8.62 VEGFB VEGFA

Sources for Macular Degeneration, Age-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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