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ARMD1
MCID: MCL042
MIFTS: 83

Macular Degeneration, Age-Related, 1 (ARMD1)

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

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

About this section

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

Name: Macular Degeneration, Age-Related, 1 58 76 39 74
Macular Degeneration 42 12 77 54 30 6 44 45 15 17 74
Age-Related Macular Degeneration 12 54 26 38 30 6 64 17
Age Related Macular Degeneration 42 39 12 15 74
Macular Degeneration, Age-Related 58 77 26 41
Armd1 58 12 76
Age Related Macular Degeneration 1 12 15
Age-Related Macular Degeneration 1 30 6
Age-Related Maculopathy 54 26
Amd 54 26
Macular Degeneration, Age-Related, 1, Susceptibility to 6
Macular Degeneration, Age-Related, Reduced Risk of 58
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, Type 1 41
Macular Degeneration, Age-Related, 2 74
Senile Macular Retinal Degeneration 12
Macular Degeneration of Retina 12
Maculopathy, Age-Related, 1 58
Senile Macular Degeneration 12
Age Related Maculopathy 1 12
Age Related Maculopathies 12
Age Related Maculopathy 12
Maculopathy Age-Related 56
Armd 26
Arm 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
macular degeneration, age-related, 1:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110014 DOID:10871 DOID:4448
OMIM 58 603075
KEGG 38 H00821
ICD9CM 36 362.50
MeSH 45 D008268
SNOMED-CT 69 18222007
ICD10 34 H35.30
MedGen 43 C1864205
SNOMED-CT via HPO 70 247154004 263681008 422338006
Sources

Summaries for Macular Degeneration, Age-Related, 1

About this section
MedlinePlus : 44 Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to basal laminar drusen and central serous chorioretinopathy, 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 Verteporfin and Ranibizumab 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.

Genetics Home Reference : 26 Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.

NIH Rare Diseases : 54 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 : 58 Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). (603075)

UniProtKB/Swiss-Prot : 76 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 : 64 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 : 77 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Sources

Related Diseases for Macular Degeneration, Age-Related, 1

About this section

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 277)
# Related Disease Score Top Affiliating Genes
1 basal laminar drusen 31.6 CFH FBLN5 HMCN1
2 central serous chorioretinopathy 31.4 ARMS2 CFH
3 kuhnt-junius degeneration 31.4 ARMS2 CFB CFH VEGFA VEGFB
4 vitreous detachment 31.2 OPTC VEGFA
5 complement factor h deficiency 31.1 CFH CFHR1
6 familial drusen 31.1 CFH EFEMP1
7 multifocal choroiditis 30.9 ARMS2 CFB CFH
8 choroiditis 30.9 ARMS2 CFB CFH
9 retinal drusen 30.9 ARMS2 CFB CFH EFEMP1 FBLN5
10 fundus dystrophy 30.8 ABCA4 BBS10 BEST1 CNGA3 EFEMP1 TIMP3
11 yemenite deaf-blind hypopigmentation syndrome 30.7 ABCA4 CFH VEGFA
12 macular dystrophy, dominant cystoid 30.7 BEST1 VEGFA
13 dense deposit disease 30.7 CFB CFH CFHR2
14 hemolytic-uremic syndrome 30.6 CFB CFH CFHR1 CFHR3
15 hemolytic uremic syndrome, atypical 1 30.6 CFB CFH CFHR1 CFHR2 CFHR3
16 macular retinal edema 30.5 BEST1 VEGFA
17 retinal disease 30.5 ABCA4 ARMS2 BEST1 CFB CFH
18 histoplasmosis 30.4 ARMS2 CFH
19 macular degeneration, age-related, 8 12.9
20 macular degeneration, age-related, 5 12.9
21 macular degeneration, age-related, 15 12.9
22 macular degeneration, age-related, 7 12.9
23 macular degeneration, age-related, 9 12.9
24 macular degeneration, age-related, 13 12.9
25 macular degeneration, age-related, 4 12.8
26 macular degeneration, age-related, 10 12.8
27 macular degeneration, age-related, 6 12.8
28 macular degeneration, age-related, 12 12.8
29 macular degeneration, age-related, 14 12.8
30 macular degeneration, age-related, 11 12.8
31 macular degeneration, x-linked atrophic 12.6
32 macular degeneration, early-onset 12.6
33 stargardt macular degeneration 12.6
34 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.5
35 myopic macular degeneration 12.4
36 neuropathy, hereditary, with or without age-related macular degeneration 12.3
37 juvenile macular degeneration and hypotrichosis 12.2
38 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features 12.2
39 glycogen storage disease ii 11.9
40 spinocerebellar ataxia 7 11.8
41 macular dystrophy, vitelliform, 2 11.5
42 stargardt disease 3 11.4
43 stargardt disease 4 11.4
44 bestrophinopathy 11.2
45 hereditary sensorimotor neuropathy with hyperelastic skin 11.2
46 macular dystrophy, vitelliform, 3 11.2
47 hypotrichosis, congenital, with juvenile macular dystrophy 11.2
48 cystoid macular retinal degeneration 11.2
49 stargardt disease 1 11.1
50 adrenomyodystrophy 11.1

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
Ischemic Heart Disease Osteoporosis
Schizophreniform Disorder Transient Cerebral Ischemia

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



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

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

About this section

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macular hemorrhage 33 occasional (7.5%) HP:0025574
2 choroidal neovascularization 33 very rare (1%) HP:0011506
3 progressive visual loss 33 HP:0000529
4 macular degeneration 33 HP:0000608
5 foveal hypopigmentation 33 HP:0012643
6 macular drusen 33 HP:0030499
7 geographic atrophy 33 HP:0031609

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# 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
Sources

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

About this section

PubMedHealth treatment related to Macular Degeneration, Age-Related, 1: 64

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 478)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 129497-78-5
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 347396-82-1 459903
3
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 216974-75-3
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
5
Ethinyl Estradiol Approved Phase 4,Not Applicable 57-63-6 5991
6
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
7
Moxifloxacin Approved, Investigational Phase 4,Not Applicable 354812-41-2, 151096-09-2 152946
8
Norgestimate Approved, Investigational Phase 4,Not Applicable 35189-28-7 6540478
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
11
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 5284549 3154
12
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 124-94-7 31307
13
Temazepam Approved, Investigational Phase 4,Phase 3,Not Applicable 846-50-4 5391
14
Povidone-iodine Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 25655-41-8
15
Iodine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 7553-56-2 807
16
Povidone Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 9003-39-8
17
Tocopherol Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 1406-66-2 14986
18
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
19
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 443872 150310
20
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 67-73-2 6215
21
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
22
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 5478 33624
23
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 74103-06-3, 66635-83-4 3826
24
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
25
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6 32051
26
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
27
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
28
Copper Approved, Investigational Phase 4,Not Applicable 7440-50-8 27099
29
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
30
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Phase 1 2921-57-5
31
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 302-25-0
32
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
33
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
34
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
35
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
36
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 1401-55-4
37
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
38
Fluprednisolone Approved Phase 4 53-34-9
39
Difluprednate Approved Phase 4 23674-86-4 443936
40
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
41
Travoprost Approved Phase 4 157283-68-6 5282226
42
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
43
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
44
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
45
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 143 6006
46
Empagliflozin Approved Phase 4 864070-44-0
47
Glimepiride Approved Phase 4 93479-97-1 3476
48
Homatropine Approved Phase 4 87-00-3
49
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
50
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 54670067 5785

Interventional clinical trials:

(show top 50) (show all 1664)
# Name Status NCT ID Phase Drugs
1 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
2 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
3 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
4 Treatment of AMD With Rheohemapheresis /RHF/ Unknown status NCT01943396 Phase 4
5 Genetics in Non-response to Anti-VEGF Treatment in Exudative AMD Unknown status NCT01213667 Phase 4 Ranibizumab
6 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
7 A Study Comparing Efficacy and Safety of "Treat-and-Extend" Regimen Versus PRN of Conbercept in AMD Unknown status NCT02802657 Phase 4 Conbercept
8 On-label tReatment With Intravitreal Aflibercept injectiOn for Patients With Persistent Pigment epitheliaL Detachments in Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT01670162 Phase 4 Aflibercept
9 A Clinical Trial to Explore the Safety and Efficacy of Injections of Macugen When Given Every 6 Weeks in Subjects With AMD Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
10 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
11 Comparison of PDT Combination With Ranibizumab vs. Ranibizumab Monotherapy in Persistent PCV With Initial Loading Dose Unknown status NCT02864472 Phase 4 Ranibizumab;ranibizumab PRN
12 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
13 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
14 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
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 Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
17 Strategies for Management of Corneal Neovascularisation Unknown status NCT02594423 Phase 4 Bevacizumab
18 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
19 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
20 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
21 Analysis of Cytokines in Response to Treatment of Diabetic Macular Edema With 0.3mg Lucentis Unknown status NCT03097068 Phase 4 Lucentis
22 Predictors of Treatment Response to Aflibercept and Aqueous Cytokine Levels in Patients With Persistent Diabetic Macular Edema Following Treatment With Ranibizumab: An Interventional Prospective Study Unknown status NCT02651168 Phase 4
23 To Compare Anti-VEGF Monotherapy With Anti-VEGF and EPM Grid Laser Combination Therapy for Diabetic Macular Edema Unknown status NCT02462304 Phase 4 ranibizumab;Bevacizumab
24 Combination of Standard Lucentis Therapy With Micropulse Diode Laser for the Treatment of Diabetic Macular Edema Unknown status NCT02059772 Phase 4 ranibizumab
25 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
26 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
27 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
28 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
29 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
30 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
31 UNcovering the Difference Between Ranibizumab and Aflibercept, Focusing on Systemic Anti-vascular Endothelial Growth Factor (VEGF) Effects in Patients With neovascuLar Age-related Macular Degeneration (AMD) Completed NCT01988662 Phase 4
32 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
33 Wet Macular Degeneration Study to Compare Ranibizumab or Bevacizumab to Aflibercept Completed NCT01617148 Phase 4 Aflibercept
34 Intravitreal Aflibercept in Wet Age Related Macular Degeneration Patients With an Incomplete Response to Routine Ranibizumab Injections Terminated NCT02002377 Phase 4 Aflibercept
35 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
36 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
37 Two-week Retreatment Interval Study for Treated Age-related Macular Degeneration Refractory to Monthly Aflibercept Not yet recruiting NCT03468296 Phase 4 Intravitreal Aflibercept Injection 2mg
38 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
39 Managing Neovascular (Known as "Wet") Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye Completed NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
40 Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With nAMD (Age Related Macular Degeneration) Completed NCT01775124 Phase 4 Ranibizumab
41 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
42 Study to Evaluate Efficacy of Aflibercept in Neovascular Age-related Macular Degeneration Patients Non Responders to Anti-Vascular Endothelial Growth Factor Completed NCT01896284 Phase 4 0.5mg aflibercept
43 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
44 Systemic Vascular Endothelial Growth Factor (VEGF) Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Completed NCT02257632 Phase 4 Ranibizumab 0.5 mg;Aflibercept 2 mg
45 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
46 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
47 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4 pegaptanib sodium (Macugen)
48 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
49 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
50 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Macular Degeneration, Age-Related, 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Macular Degeneration, Age-Related, 1:
Bone marrow-derived hematopoietic stem cells for retinopathy
Bone marrow-derived stem cells for retinal diseases
CNTO2476, human umbilical tissue-derived cells for macular degeneration
HuCNS-SC, human central nervous system stem cells for neurological diseases
MA09-hRPE, embryonic retinal pigmented epithelial cells for degenerative macular diseases
OpRegen, retinal pigment epithelial (RPE) cells for treatment of retinal disease
Pf-05206388, retinal pigmented epithelial cells for macular degeneration
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Macular Degeneration, Age-Related, 1:
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22247454
Bone marrow-derived hematopoietic CD34+ progenitors PMIDs: 22247454
Bone marrow-derived mononuclear cells (family) PMIDs: 23049424 21225138 19347139 23000646
Umbilical tissue-derived cells (CNTO2476) PMIDs: 22450217
Human neural stem cells (HuCNS-SC�) PMIDs: 16610769
Mature retinal pigmented epithelium cells PMIDs: 19521979 22281388
Retinal pigmented epithelium cells PMIDs: 19796620
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: macular degeneration

Sources

Genetic Tests for Macular Degeneration, Age-Related, 1

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

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 30
2 Age-Related Macular Degeneration 1 30 APOE CFHR1 CFHR3 HMCN1
3 Macular Degeneration 30
Sources

Anatomical Context for Macular Degeneration, Age-Related, 1

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

42
Eye, Endothelial, Retina, Testes, Bone, Brain, Bone Marrow
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
Sources

Publications for Macular Degeneration, Age-Related, 1

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

(show top 50) (show all 5021)
# Title Authors Year
1
Vascular Response to Sildenafil Citrate in Aging and Age-Related Macular Degeneration. ( 30911094 )
2019
2
Psychological and Psychosocial Interventions for Depression and Anxiety in Patients With Age-Related Macular Degeneration: A Systematic Review. ( 31005495 )
2019
3
First-Year Outcomes of Cataract Surgery Combined with Intravitreal Ranibizumab Injection in Wet Age-Related Macular Degeneration ( 30829020 )
2019
4
Cataract surgery with implantation of a high-add intraocular lens LENTIS® MAX LS-313 MF80 in end-stage, age-related macular degeneration: A case report of magnifying surgery. ( 30656012 )
2019
5
Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age-related macular degeneration, glaucoma and cataract. ( 30298670 )
2019
6
Optical coherence tomography angiography findings in cystoid macular degeneration associated with central serous chorioretinopathy. ( 30602447 )
2019
7
Comorbidity of dementia and age-related macular degeneration calls for clinical awareness: a meta-analysis. ( 31000510 )
2019
8
INVOLUTION OF NEOVASCULAR AGE-RELATED MACULAR DEGENERATION AFTER ENDOPHTHALMITIS. ( 30932994 )
2019
9
Association of chronic hepatitis B virus infection with age-related macular degeneration. ( 30690913 )
2019
10
Increased risk of neovascular age-related macular degeneration in patients with herpes zoster ophthalmicus: a retrospective cohort study. ( 30218493 )
2019
11
Association of Intravitreal Anti-Vascular Endothelial Growth Factor Therapy With Risk of Stroke, Myocardial Infarction, and Death in Patients With Exudative Age-Related Macular Degeneration. ( 30703203 )
2019
12
Prevalence and Phenotypes of Age-Related Macular Degeneration in Eyes With High Myopia. ( 30938774 )
2019
13
Influence of myopic macular degeneration severity on treatment outcomes with intravitreal aflibercept in the MYRROR study. ( 30690902 )
2019
14
Refractive error has minimal influence on the risk of age-related macular degeneration: A Mendelian randomization study. ( 30905725 )
2019
15
Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa. ( 30805203 )
2019
16
Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach. ( 30885665 )
2019
17
Serum 25-Hydroxyvitamin D Concentrations and Incidence of Age-Related Macular Degeneration: The Atherosclerosis Risk in Communities Study. ( 30934055 )
2019
18
Impact of Drusen Volume on Quantitative Fundus Autofluorescence in Early and Intermediate Age-Related Macular Degeneration. ( 31050721 )
2019
19
Long-term effect of intravitreal ranibizumab therapy on retinal nerve fiber layer in eyes with exudative age-related macular degeneration. ( 31053943 )
2019
20
Optical Coherence Tomography Characteristics of Quiescent Type 1 Neovascularization in Eyes with Nonexudative Age-related Macular Degeneration ( 31055893 )
2019
21
Longitudinal Study of Visual Function in Dry Age-Related Macular Degeneration at 12 Months. ( 31060977 )
2019
22
Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. ( 31068672 )
2019
23
Long-term changes in retinal layers in patients undergoing intravitreal ranibizumab for neovascular age-related macular degeneration : Retinal layers after anti-VEGF therapy. ( 31069616 )
2019
24
Quantitative Assessment of Choriocapillaris Flow Deficits in Eyes with Advanced Age-Related Macular Degeneration Versus Healthy Eyes. ( 31078531 )
2019
25
Safety and tolerability of ranibizumab in uni/bilateral neovascular age-related macular degeneration: 12-month TWEYEs study. ( 31079057 )
2019
26
CD44 aptamer mediated cargo delivery to lysosomes of retinal pigment epithelial cells to prevent age-related macular degeneration. ( 31080896 )
2019
27
Associations of TLR4 gene polymorphisms with the risk of age-related macular degeneration in a Chinese Han population. ( 31083239 )
2019
28
Intravitreal aflibercept efficacy in neovascular age-related macular degeneration with suboptimal response to anti-vascular endothelial growth factor-A therapy. ( 31088111 )
2019
29
Role of Mitochondrial DNA Damage in ROS-Mediated Pathogenesis of Age-Related Macular Degeneration (AMD). ( 31091656 )
2019
30
Evaluation of a Remote Diagnosis Imaging Model vs Dilated Eye Examination in Referable Macular Degeneration. ( 31095245 )
2019
31
Protective effects on age-related macular degeneration by activated autophagy induced by amyloid-β in retinal pigment epithelial cells. ( 31095924 )
2019
32
Use of Bevacizumab and Ranibizumab for Wet Age-Related Macular Degeneration: Influence of CATT Results and Introduction of Aflibercept. ( 31100217 )
2019
33
How Successful is Switching from Bevacizumab or Ranibizumab to Aflibercept in Age-Related Macular Degeneration? A Systematic Overview. ( 31102206 )
2019
34
Rehabilitation with biofeedback training in age-related macular degeneration for improving distance vision. ( 31109472 )
2019
35
Durability of every-8-week aflibercept maintenance therapy in treatment-experienced neovascular age-related macular degeneration. ( 30806775 )
2019
36
Human complement factor H Y402H polymorphism causes an age-related macular degeneration phenotype and lipoprotein dysregulation in mice. ( 30808757 )
2019
37
Intravitreal conbercept injection for neovascular age-related macular degeneration. ( 30809481 )
2019
38
Effectiveness of monthly and fortnightly anti-VEGF treatments for age-related macular degeneration. ( 30810619 )
2019
39
Neutrophil-to-lymphocyte ratio in age-related macular degeneration: a systematic review and meta-analysis. ( 30811869 )
2019
40
Aflibercept: A review of its effect on the treatment of exudative age-related macular degeneration. ( 30813810 )
2019
41
Fundus autofluorescence and retinal sensitivity in fellow eyes of age-related macular degeneration in Japan. ( 30818384 )
2019
42
Incidence of Age-Related Macular Degeneration in the Central Region of Portugal: The Coimbra Eye Study - Report 5. ( 30820012 )
2019
43
Comparison of histologic findings in age-related macular degeneration with RPE flatmount images. ( 30820143 )
2019
44
Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent. ( 30820144 )
2019
45
Role of the Choroid in Age-related Macular Degeneration: A Current Review. ( 30820291 )
2019
46
ASSESSING THE ACCURACY OF A LARGE OBSERVATIONAL REGISTRY OF NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. ( 30821728 )
2019
47
A stem-cell-derived eye patch for macular degeneration. ( 30824886 )
2019
48
Anti-vascular endothelial growth factor for neovascular age-related macular degeneration. ( 30834517 )
2019
49
Intravitreal Ets1 siRNA alleviates choroidal neovascularization in a mouse model of age-related macular degeneration. ( 30834976 )
2019
50
Feasibility of support vector machine learning in age-related macular degeneration using small sample yielding sparse optical coherence tomography data. ( 30839157 )
2019
Sources

Variations for Macular Degeneration, Age-Related, 1

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

76
# Symbol AA change Variation ID SNP ID
1 HMCN1 p.Gln5345Arg VAR_024818 rs121434382

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

6 (show top 50) (show all 1644)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARMS2 NM_001099667.2(ARMS2): c.205G> T (p.Ala69Ser) single nucleotide variant Likely benign rs10490924 GRCh37 Chromosome 10, 124214448: 124214448
2 ARMS2 NM_001099667.2(ARMS2): c.205G> T (p.Ala69Ser) single nucleotide variant Likely benign rs10490924 GRCh38 Chromosome 10, 122454932: 122454932
3 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh37 Chromosome 10, 50678722: 50678722
4 ERCC6 NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs4253208 GRCh38 Chromosome 10, 49470676: 49470676
5 HMCN1 NM_031935.2(HMCN1): c.16034A> G (p.Gln5345Arg) single nucleotide variant risk factor rs121434382 GRCh37 Chromosome 1, 186147638: 186147638
6 HMCN1 NM_031935.2(HMCN1): c.16034A> G (p.Gln5345Arg) single nucleotide variant risk factor rs121434382 GRCh38 Chromosome 1, 186178506: 186178506
7 FSCN2 NM_001077182.2(FSCN2): c.72delG (p.Thr25Glnfs) deletion Conflicting interpretations of pathogenicity rs376633374 GRCh37 Chromosome 17, 79495629: 79495629
8 FSCN2 NM_001077182.2(FSCN2): c.72delG (p.Thr25Glnfs) deletion Conflicting interpretations of pathogenicity rs376633374 GRCh38 Chromosome 17, 81528603: 81528603
9 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
10 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh38 Chromosome 1, 196753076: 196839375
11 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh37 Chromosome 1, 94512602: 94512602
12 ABCA4 NM_000350.2(ABCA4): c.2791G> A (p.Val931Met) single nucleotide variant Conflicting interpretations of pathogenicity rs58331765 GRCh38 Chromosome 1, 94047046: 94047046
13 ABCA4 NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41292677 GRCh37 Chromosome 1, 94467548: 94467548
14 ABCA4 NM_000350.2(ABCA4): c.6148G> C (p.Val2050Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41292677 GRCh38 Chromosome 1, 94001992: 94001992
15 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh37 Chromosome 1, 94463617: 94463617
16 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh38 Chromosome 1, 93998061: 93998061
17 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh37 Chromosome 1, 94505604: 94505604
18 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh38 Chromosome 1, 94040048: 94040048
19 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
20 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh38 Chromosome 1, 94047009: 94047009
21 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
22 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
23 C2 NM_000063.5(C2): c.954G> C (p.Glu318Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs9332739 GRCh37 Chromosome 6, 31903804: 31903804
24 C2 NM_000063.5(C2): c.954G> C (p.Glu318Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs9332739 GRCh38 Chromosome 6, 31936027: 31936027
25 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
26 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403
27 C2; CFB NM_001710.5(CFB): c.94C> T (p.Arg32Trp) single nucleotide variant Benign rs12614 GRCh37 Chromosome 6, 31914179: 31914179
28 C2; CFB NM_001710.5(CFB): c.94C> T (p.Arg32Trp) single nucleotide variant Benign rs12614 GRCh38 Chromosome 6, 31946402: 31946402
29 C2; CFB NM_001710.5(CFB): c.26T> A (p.Leu9His) single nucleotide variant Conflicting interpretations of pathogenicity rs4151667 GRCh37 Chromosome 6, 31914024: 31914024
30 C2; CFB NM_001710.5(CFB): c.26T> A (p.Leu9His) single nucleotide variant Conflicting interpretations of pathogenicity rs4151667 GRCh38 Chromosome 6, 31946247: 31946247
31 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh37 Chromosome 1, 196642233: 196642233
32 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh38 Chromosome 1, 196673103: 196673103
33 C3 NM_000064.3(C3): c.304C> G (p.Arg102Gly) single nucleotide variant Benign rs2230199 GRCh37 Chromosome 19, 6718387: 6718387
34 C3 NM_000064.3(C3): c.304C> G (p.Arg102Gly) single nucleotide variant Benign rs2230199 GRCh38 Chromosome 19, 6718376: 6718376
35 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh37 Chromosome 19, 6713262: 6713262
36 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh38 Chromosome 19, 6713251: 6713251
37 ARMS2; HTRA1 NM_002775.4(HTRA1): c.102C> T (p.Ala34=) single nucleotide variant Benign/Likely benign rs1049331 GRCh37 Chromosome 10, 124221270: 124221270
38 ARMS2; HTRA1 NM_002775.4(HTRA1): c.102C> T (p.Ala34=) single nucleotide variant Benign/Likely benign rs1049331 GRCh38 Chromosome 10, 122461754: 122461754
39 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> C (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh37 Chromosome 10, 124221276: 124221276
40 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> C (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh38 Chromosome 10, 122461760: 122461760
41 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> T (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh37 Chromosome 10, 124221276: 124221276
42 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> T (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh38 Chromosome 10, 122461760: 122461760
43 FBLN5 NM_006329.3(FBLN5): c.604G> A (p.Gly202Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338765 GRCh37 Chromosome 14, 92357580: 92357580
44 FBLN5 NM_006329.3(FBLN5): c.604G> A (p.Gly202Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338765 GRCh38 Chromosome 14, 91891236: 91891236
45 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
46 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh38 Chromosome 1, 94113068: 94113068
47 HMCN1 NM_031935.2(HMCN1): c.4586A> G (p.Asn1529Ser) single nucleotide variant Benign/Likely benign rs41317471 GRCh37 Chromosome 1, 185976370: 185976370
48 HMCN1 NM_031935.2(HMCN1): c.4586A> G (p.Asn1529Ser) single nucleotide variant Benign/Likely benign rs41317471 GRCh38 Chromosome 1, 186007238: 186007238
49 HMCN1 NM_031935.2(HMCN1): c.8678A> G (p.Glu2893Gly) single nucleotide variant Benign/Likely benign rs10798035 GRCh37 Chromosome 1, 186050417: 186050417
50 HMCN1 NM_031935.2(HMCN1): c.8678A> G (p.Glu2893Gly) single nucleotide variant Benign/Likely benign rs10798035 GRCh38 Chromosome 1, 186081285: 186081285

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

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

Expression for Macular Degeneration, Age-Related, 1

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

Pathways for Macular Degeneration, Age-Related, 1

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

# Super pathways Score Top Affiliating Genes
1
Creation of C4 and C2 activators 67
Show member pathways
 11.59 CFB CFH CFHR3
2
Immune response Lectin induced complement pathway 23
Show member pathways
 11.26 CFB CFH CFHR3
3
Angiogenesis (WikiPathways) 1
10.54 TIMP3 VEGFA
4
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
9.58 VEGFA VEGFB
Sources

GO Terms for Macular Degeneration, Age-Related, 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 APOE CFB CFH CFHR1 CFHR3 EFEMP1
2 collagen-containing extracellular matrix GO:0062023 9.72 APOE EFEMP1 FBLN5 HMCN1 TIMP3
3 blood microparticle GO:0072562 9.55 APOE CFB CFH CFHR1 CFHR3
4 extracellular matrix GO:0031012 9.43 APOE EFEMP1 FBLN5 OPTC TIMP3 VEGFA
5 extracellular region GO:0005576 9.4 APOE CFB CFH CFHR1 CFHR2 EFEMP1

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

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 EFEMP1 HMCN1 OPTC
2 protein homodimerization activity GO:0042803 9.5 APOE CFHR1 CFHR2 FBLN5 HMCN1 VEGFA
3 heparin binding GO:0008201 9.46 APOE CFH VEGFA VEGFB
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 VEGFA VEGFB
Sources

Sources for Macular Degeneration, Age-Related, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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