ARMD1
MCID: MCL042
MIFTS: 84

Macular Degeneration, Age-Related, 1 (ARMD1)

Categories: 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 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 17 64
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:



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

Summaries for Macular Degeneration, Age-Related, 1

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 central serous chorioretinopathy and kuhnt-junius degeneration, 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...

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 253)
# Related Disease Score Top Affiliating Genes
1 central serous chorioretinopathy 31.4 ARMS2 CFH
2 kuhnt-junius degeneration 31.3 ARMS2 CFB CFH VEGFA VEGFB
3 vitreous detachment 31.2 OPTC VEGFA
4 familial drusen 31.0 CFH EFEMP1
5 multifocal choroiditis 30.9 ARMS2 CFB CFH
6 choroiditis 30.9 ARMS2 CFB CFH
7 retinal drusen 30.9 ARMS2 CFB CFH EFEMP1 FBLN5
8 fundus dystrophy 30.8 ABCA4 BBS10 BEST1 CNGA3 EFEMP1 TIMP3
9 yemenite deaf-blind hypopigmentation syndrome 30.7 ABCA4 CFH VEGFA
10 macular dystrophy, dominant cystoid 30.7 BEST1 VEGFA
11 dense deposit disease 30.7 CFB CFH CFHR2
12 basal laminar drusen 30.7 CFH FBLN5 HMCN1
13 hemolytic uremic syndrome, atypical 1 30.7 CFB CFH CFHR1 CFHR2 CFHR3
14 hemolytic-uremic syndrome 30.6 CFB CFH CFHR1 CFHR3
15 macular retinal edema 30.5 BEST1 VEGFA
16 retinal disease 30.5 ABCA4 ARMS2 BEST1 CFB CFH
17 histoplasmosis 30.4 ARMS2 CFH
18 macular degeneration, age-related, 5 12.9
19 macular degeneration, age-related, 15 12.9
20 macular degeneration, age-related, 2 12.8
21 macular degeneration, age-related, 7 12.8
22 macular degeneration, age-related, 9 12.8
23 macular degeneration, age-related, 12 12.8
24 macular degeneration, age-related, 13 12.8
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, 8 12.8
29 macular degeneration, age-related, 14 12.8
30 macular degeneration, age-related, 11 12.8
31 stargardt macular degeneration 12.6
32 macular degeneration, x-linked atrophic 12.5
33 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.5
34 macular degeneration, early-onset 12.5
35 myopic macular degeneration 12.4
36 neuropathy, hereditary, with or without age-related macular degeneration 12.2
37 juvenile macular degeneration and hypotrichosis 12.2
38 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features 12.1
39 glycogen storage disease ii 11.9
40 spinocerebellar ataxia 7 11.8
41 macular dystrophy, vitelliform, 2 11.2
42 bestrophinopathy 11.2
43 hereditary sensorimotor neuropathy with hyperelastic skin 11.2
44 macular dystrophy, vitelliform, 3 11.2
45 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
46 cystoid macular retinal degeneration 11.1
47 stargardt disease 1 11.1
48 adrenomyodystrophy 11.1
49 langerhans cell histiocytosis 11.1
50 retinoschisis 1, x-linked, juvenile 11.0

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

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

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

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

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 477)
# 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 3154 5284549
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,Phase 2,Not Applicable,Early Phase 1 25655-41-8
15
Iodine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 7553-56-2 807
16
Povidone Approved Phase 4,Phase 3,Phase 1,Phase 2,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
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
19
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 67-73-2 6215
20
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
21
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
22
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 33624 5478
23
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 66635-83-4, 74103-06-3 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
Copper Approved, Investigational Phase 4,Not Applicable 7440-50-8 27099
27
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
28
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
29
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Phase 1 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 302-25-0
31
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
32
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
33
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
34
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 94-09-7, 1994-09-7 2337
35
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 1401-55-4
36
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
37
Fluprednisolone Approved Phase 4 53-34-9
38
Difluprednate Approved Phase 4 23674-86-4 443936
39
Travoprost Approved Phase 4 157283-68-6 5282226
40
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
41
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
42
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
43
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
44
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 6006 143
45
Empagliflozin Approved Phase 4 864070-44-0
46
Glimepiride Approved Phase 4 93479-97-1 3476
47
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
48
Homatropine Approved Phase 4 87-00-3
49
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 5785 54670067
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 59-02-9 14985

Interventional clinical trials:

(show top 50) (show all 1641)
# 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 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
22 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
23 Combination of Standard Lucentis Therapy With Micropulse Diode Laser for the Treatment of Diabetic Macular Edema Unknown status NCT02059772 Phase 4 ranibizumab
24 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
25 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
26 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
27 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
28 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
29 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
30 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
31 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
32 Wet Macular Degeneration Study to Compare Ranibizumab or Bevacizumab to Aflibercept Completed NCT01617148 Phase 4 Aflibercept
33 Intravitreal Aflibercept in Wet Age Related Macular Degeneration Patients With an Incomplete Response to Routine Ranibizumab Injections Terminated NCT02002377 Phase 4 Aflibercept
34 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
35 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
36 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
37 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
38 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 Active, not recruiting NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
39 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
40 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
41 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
42 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
43 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
44 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
45 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)
46 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
47 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
48 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab
49 Efficacy of Fixed Monthly Dosing of Ranibizumab in Neovascular Age-related Macular Degeneration Completed NCT02944227 Phase 4 Lucentis
50 The IAI-OCTA Study; a Study of OCT-Angiography Analysis Efficacy Recruiting NCT03022292 Phase 4 Aflibercept Ophthalmic

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.

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 30
2 Age-Related Macular Degeneration 1 30 APOE CFHR1 CFHR3 HMCN1
3 Macular Degeneration 30

Anatomical Context for Macular Degeneration, Age-Related, 1

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

Publications for Macular Degeneration, Age-Related, 1

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

(show top 50) (show all 4894)
# Title Authors Year
1
Vascular Response to Sildenafil Citrate in Aging and Age-Related Macular Degeneration. ( 30911094 )
2019
2
First-Year Outcomes of Cataract Surgery Combined with Intravitreal Ranibizumab Injection in Wet Age-Related Macular Degeneration ( 30829020 )
2019
3
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
4
Optical coherence tomography angiography findings in cystoid macular degeneration associated with central serous chorioretinopathy. ( 30602447 )
2019
5
Association of chronic hepatitis B virus infection with age-related macular degeneration. ( 30690913 )
2019
6
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
7
Influence of myopic macular degeneration severity on treatment outcomes with intravitreal aflibercept in the MYRROR study. ( 30690902 )
2019
8
Refractive error has minimal influence on the risk of age-related macular degeneration: A Mendelian randomization study. ( 30905725 )
2019
9
Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa. ( 30805203 )
2019
10
Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach. ( 30885665 )
2019
11
Fundus autofluorescence and retinal sensitivity in fellow eyes of age-related macular degeneration in Japan. ( 30818384 )
2019
12
Incidence of Age-Related Macular Degeneration in the Central Region of Portugal: The Coimbra Eye Study - Report 5. ( 30820012 )
2019
13
Comparison of histologic findings in age-related macular degeneration with RPE flatmount images. ( 30820143 )
2019
14
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
15
Role of the Choroid in Age-related Macular Degeneration: A Current Review. ( 30820291 )
2019
16
ASSESSING THE ACCURACY OF A LARGE OBSERVATIONAL REGISTRY OF NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. ( 30821728 )
2019
17
A stem-cell-derived eye patch for macular degeneration. ( 30824886 )
2019
18
Anti-vascular endothelial growth factor for neovascular age-related macular degeneration. ( 30834517 )
2019
19
Intravitreal Ets1 siRNA alleviates choroidal neovascularization in a mouse model of age-related macular degeneration. ( 30834976 )
2019
20
Feasibility of support vector machine learning in age-related macular degeneration using small sample yielding sparse optical coherence tomography data. ( 30839157 )
2019
21
CLINICOPATHOLOGIC CORRELATION OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION. ( 30839495 )
2019
22
Four-Year Outcome of Aflibercept for Neovascular Age-Related Macular Degeneration and polypoidal choroidal vasculopathy. ( 30842468 )
2019
23
Association of CD11b+ Monocytes and Anti-Vascular Endothelial Growth Factor Injections in Treatment of Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy. ( 30844038 )
2019
24
Meta-analysis of the rs243865 MMP-2 polymorphism and age-related macular degeneration risk. ( 30845235 )
2019
25
Protocol of global incidence and progression of age-related macular degeneration: A systematic review. ( 30855452 )
2019
26
Socio-economic status and outcomes for patients with age-related macular degeneration. ( 30858565 )
2019
27
Five-year outcomes of intravitreal drug therapy for neovascular age-related macular degeneration in eyes with baseline vision 20/60 or better. ( 30858684 )
2019
28
Three-year follow-up of Phase 1 and 2a rAAV.sFLT-1 subretinal gene therapy trials for exudative age related macular degeneration. ( 30878487 )
2019
29
Effect of 2-year nutritional supplementation on progression of age-related macular degeneration. ( 30880442 )
2019
30
Retinal and Choroidal Changes after Anti Vascular Endothelial Growth Factor Therapy for Neovascular Age-related Macular Degeneration. ( 30892159 )
2019
31
Preventing Progression in Nonexudative Age-Related Macular Degeneration With Subthreshold Laser Therapy: A Systematic Review. ( 30893458 )
2019
32
Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration. ( 30894217 )
2019
33
Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population. ( 30895599 )
2019
34
Association of Dietary and Supplementary Calcium Intake With Age-Related Macular Degeneration: Age-Related Eye Disease Study Report 39. ( 30896764 )
2019
35
The Question of Prescribing Calcium Supplements to Patients at High Risk of Age-Related Macular Degeneration. ( 30896774 )
2019
36
The results of aflibercept therapy as a first line treatment of age-related macular degeneration. ( 30899849 )
2019
37
Subfoveal choriocapillaris, Sattler's and Haller's layer thickness predict clinical response to stereotactic radiotherapy in neovascular age-related macular degeneration patients. ( 30899853 )
2019
38
Quantitative choriocapillaris evaluation in intermediate age-related macular degeneration by swept-source optical coherence tomography angiography. ( 30900822 )
2019
39
Reduced Vessel Density of the Choriocapillaris during Anti-Vascular Endothelial Growth Factor Therapy for Neovascular Age-Related Macular Degeneration. ( 30901385 )
2019
40
Müller cells and choriocapillaris in the pathogenesis of geographic atrophy secondary to age-related macular degeneration. ( 30903311 )
2019
41
Telemedicine in the management of exudative age-related macular degeneration within an integrated healthcare system. ( 30905726 )
2019
42
Long-Term Changes in Submacular Choroidal Thickness After Intravitreal Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration: 14-Mo Follow-Up. ( 30909756 )
2019
43
Blood metals, age related macular degeneration and contrast sensitivity impairment. ( 30910210 )
2019
44
Macular Atrophy of the Retinal Pigment Epithelium in Patients with Neovascular Age-Related Macular Degeneration: What is the Link? Part I: A Review of Disease Characterization and Morphological Associations. ( 30911999 )
2019
45
Fenofibrate-Loaded Biodegradable Nanoparticles for the Treatment of Experimental Diabetic Retinopathy and Neovascular Age-Related Macular Degeneration. ( 30912953 )
2019
46
Consumption of eggs and the 15-year incidence of age-related macular degeneration. ( 30914217 )
2019
47
Comment on: Association of obesity and age-related macular degeneration in Indian population. ( 30574950 )
2019
48
Response to comment on: Association of obesity and age-related macular degeneration in Indian population. ( 30574951 )
2019
49
Advanced Optical Coherence Tomography Angiography Analysis of Age-related Macular Degeneration Complicated by Onset of Unilateral Choroidal Neovascularization. ( 30577951 )
2019
50
Characteristics and Outcomes of Full-thickness Macular Hole Repair in Patients Receiving Anti-VEGF Injections for Neovascular Age-related Macular Degeneration. ( 30585922 )
2019

Variations for Macular Degeneration, Age-Related, 1

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 FBLN5 NM_006329.3(FBLN5): c.989+13G> A single nucleotide variant Benign rs74071605 GRCh37 Chromosome 14, 92347623: 92347623
2 FBLN5 NM_006329.3(FBLN5): c.989+13G> A single nucleotide variant Benign rs74071605 GRCh38 Chromosome 14, 91881279: 91881279
3 FBLN5 NM_006329.3(FBLN5): c.863-13C> T single nucleotide variant Benign rs74071606 GRCh37 Chromosome 14, 92347775: 92347775
4 FBLN5 NM_006329.3(FBLN5): c.863-13C> T single nucleotide variant Benign rs74071606 GRCh38 Chromosome 14, 91881431: 91881431
5 FBLN5 NM_006329.3(FBLN5): c.945T> C (p.Ile315=) single nucleotide variant Benign rs2430347 GRCh37 Chromosome 14, 92347680: 92347680
6 FBLN5 NM_006329.3(FBLN5): c.945T> C (p.Ile315=) single nucleotide variant Benign rs2430347 GRCh38 Chromosome 14, 91881336: 91881336
7 ABCA4 NM_000350.2(ABCA4): c.4771G> A (p.Gly1591Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113106943 GRCh37 Chromosome 1, 94487404: 94487404
8 ABCA4 NM_000350.2(ABCA4): c.4771G> A (p.Gly1591Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113106943 GRCh38 Chromosome 1, 94021848: 94021848
9 HMCN1 NM_031935.2(HMCN1): c.114G> T (p.Gly38=) single nucleotide variant Conflicting interpretations of pathogenicity rs115169621 GRCh37 Chromosome 1, 185704025: 185704025
10 HMCN1 NM_031935.2(HMCN1): c.114G> T (p.Gly38=) single nucleotide variant Conflicting interpretations of pathogenicity rs115169621 GRCh38 Chromosome 1, 185734893: 185734893
11 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh37 Chromosome 10, 50678829: 50678829
12 ERCC6 NM_000124.3(ERCC6): c.3177T> C (p.Ser1059=) single nucleotide variant Likely benign rs4253207 GRCh38 Chromosome 10, 49470783: 49470783
13 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
14 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
15 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
16 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
17 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh37 Chromosome 10, 50701156: 50701156
18 ERCC6 NM_000124.3(ERCC6): c.1821+7C> T single nucleotide variant Benign rs4253132 GRCh38 Chromosome 10, 49493110: 49493110
19 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
20 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
21 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh37 Chromosome 10, 50732806: 50732806
22 ERCC6 NM_000124.3(ERCC6): c.670C> T (p.Leu224Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150935953 GRCh38 Chromosome 10, 49524760: 49524760
23 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh37 Chromosome 10, 50740861: 50740861
24 ERCC6 NM_000124.3(ERCC6): c.150G> A (p.Val50=) single nucleotide variant Likely benign rs80133923 GRCh38 Chromosome 10, 49532815: 49532815
25 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh37 Chromosome 10, 50690854: 50690854
26 ERCC6 NM_000124.3(ERCC6): c.2048G> A (p.Arg683Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148845653 GRCh38 Chromosome 10, 49482808: 49482808
27 ABCA4 NM_000350.2(ABCA4): c.1356+10dupG duplication Benign rs281865386 GRCh37 Chromosome 1, 94544136: 94544136
28 ABCA4 NM_000350.2(ABCA4): c.1356+10dupG duplication Benign rs281865386 GRCh38 Chromosome 1, 94078580: 94078580
29 ABCA4 NM_000350.2(ABCA4): c.1654G> A (p.Val552Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145525174 GRCh37 Chromosome 1, 94528774: 94528774
30 ABCA4 NM_000350.2(ABCA4): c.1654G> A (p.Val552Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145525174 GRCh38 Chromosome 1, 94063218: 94063218
31 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh37 Chromosome 10, 50682268: 50682268
32 ERCC6 NM_000124.3(ERCC6): c.2403C> T (p.Ala801=) single nucleotide variant Likely benign rs114896216 GRCh38 Chromosome 10, 49474222: 49474222
33 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh37 Chromosome 10, 50680422: 50680422
34 ERCC6 NM_000124.3(ERCC6): c.2924G> A (p.Arg975Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145720191 GRCh38 Chromosome 10, 49472376: 49472376
35 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh37 Chromosome 10, 50679030: 50679030
36 ERCC6 NM_000124.3(ERCC6): c.3061A> G (p.Ile1021Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41562713 GRCh38 Chromosome 10, 49470984: 49470984
37 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh37 Chromosome 10, 50679081: 50679081
38 ERCC6 NM_000124.3(ERCC6): c.3010C> T (p.Leu1004=) single nucleotide variant Benign rs2274097 GRCh38 Chromosome 10, 49471035: 49471035
39 RAX2 NM_032753.3(RAX2): c.45T> G (p.Gly15=) single nucleotide variant Benign/Likely benign rs139127905 GRCh37 Chromosome 19, 3771696: 3771696
40 RAX2 NM_032753.3(RAX2): c.45T> G (p.Gly15=) single nucleotide variant Benign/Likely benign rs139127905 GRCh38 Chromosome 19, 3771698: 3771698
41 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh37 Chromosome 10, 50738781: 50738781
42 ERCC6 NM_000124.3(ERCC6): c.528A> G (p.Arg176=) single nucleotide variant Benign rs4253027 GRCh38 Chromosome 10, 49530735: 49530735
43 HMCN1 NM_031935.2(HMCN1): c.15010A> T (p.Thr5004Ser) single nucleotide variant Benign/Likely benign rs114364265 GRCh37 Chromosome 1, 186121995: 186121995
44 HMCN1 NM_031935.2(HMCN1): c.15010A> T (p.Thr5004Ser) single nucleotide variant Benign/Likely benign rs114364265 GRCh38 Chromosome 1, 186152863: 186152863
45 HMCN1 NM_031935.2(HMCN1): c.15011C> T (p.Thr5004Ile) single nucleotide variant Benign/Likely benign rs114629728 GRCh37 Chromosome 1, 186121996: 186121996
46 HMCN1 NM_031935.2(HMCN1): c.15011C> T (p.Thr5004Ile) single nucleotide variant Benign/Likely benign rs114629728 GRCh38 Chromosome 1, 186152864: 186152864
47 HMCN1 NM_031935.2(HMCN1): c.4163delC (p.Pro1388Hisfs) deletion Pathogenic rs879255520 GRCh37 Chromosome 1, 185970523: 185970523
48 HMCN1 NM_031935.2(HMCN1): c.4163delC (p.Pro1388Hisfs) deletion Pathogenic rs879255520 GRCh38 Chromosome 1, 186001391: 186001391
49 FBLN5 NM_006329.3(FBLN5): c.268G> A (p.Gly90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144288844 GRCh38 Chromosome 14, 91937058: 91937058
50 FBLN5 NM_006329.3(FBLN5): c.268G> A (p.Gly90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144288844 GRCh37 Chromosome 14, 92403402: 92403402

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 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 for Macular Degeneration, Age-Related, 1

3 CDC
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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
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37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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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
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