MCID: MCL042
MIFTS: 72

Macular Degeneration, Age-Related, 1

Categories: Genetic diseases, Rare diseases, Eye diseases

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

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

Name: Macular Degeneration, Age-Related, 1 54 71 38 69
Macular Degeneration 39 12 50 29 41 42 14 69
Age Related Macular Degeneration 39 38 12 24 14 69
Age-Related Macular Degeneration 12 50 24 25 29
Armd1 12 24 71
Age Related Macular Degeneration 1 12 14
Age-Related Macular Degeneration 1 24 29
Macular Degeneration, Age-Related 54 25
Senile Macular Degeneration 12 24
Age-Related Maculopathy 50 25
Armd 24 25
Amd 50 25
Macular Degeneration, Age-Related, Reduced Risk of 54
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, 2 69
Senile Macular Retinal Degeneration 12
Macular Degeneration of Retina 12
Macular Degeneration, Senile 52
Age Related Maculopathy 1 12
Wet Macular Degeneration 42
Maculopathy Age-Related 52
Arm 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


Classifications:



Summaries for Macular Degeneration, Age-Related, 1

NIH Rare Diseases : 50 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. last updated: 10/7/2013

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to macular degeneration, age-related, 7 and macular degeneration, age-related, 11, and has symptoms including progressive visual loss, angina pectoris and tremor. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (Hemicentin 1), and among its related pathways/superpathways are Complement and coagulation cascades and Complement Pathway. The drugs Ranibizumab and Verteporfin have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are Decreased viability with paclitaxel and cardiovascular system

UniProtKB/Swiss-Prot : 71 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.

MedlinePlus : 41 macular degeneration, or age-related macular degeneration (amd), is a leading cause of vision loss in americans 60 and older. it is a disease that destroys your sharp, central vision. you need central vision to see objects clearly and to do tasks such as reading and driving. amd affects the macula, the part of the eye that allows you to see fine detail. it does not hurt, but it causes cells in the macula to die. there are two types: wet and dry. wet amd happens when abnormal blood vessels grow under the macula. these new blood vessels often leak blood and fluid. wet amd damages the macula quickly. blurred vision is a common early symptom. dry amd happens when the light-sensitive cells in the macula slowly break down. your gradually lose your central vision. a common early symptom is that straight lines appear crooked. regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. treatment can slow vision loss. it does not restore vision. nih: national eye institute

Genetics Home Reference : 25 Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.

OMIM : 54
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)

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.

Wikipedia : 72 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, 4 Macular Degeneration, Age-Related, 12
Macular Degeneration, Age-Related, 13 Macular Degeneration, Age-Related, 15
Macular Degeneration, Age-Related, 10 Macular Degeneration, Age-Related 5
Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 8
Macular Degeneration, Age-Related, 6 Macular Degeneration, Age-Related, 9
Macular Degeneration, Age-Related, 11

Diseases related to Macular Degeneration, Age-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 7 12.5
2 macular degeneration, age-related, 11 12.5
3 macular degeneration, age-related, 2 12.5
4 macular degeneration, age-related, 4 12.5
5 macular degeneration, age-related, 12 12.5
6 macular degeneration, age-related, 15 12.5
7 macular degeneration, age-related, 10 12.5
8 macular degeneration, age-related 5 12.5
9 macular degeneration, age-related, 8 12.5
10 macular degeneration, age-related, 6 12.5
11 macular degeneration, age-related, 9 12.5
12 macular degeneration, age-related, 13 12.4
13 macular degeneration, age-related, 14, reduced risk of 12.4
14 stargardt macular degeneration 12.3
15 neuropathy, hereditary, with or without age-related macular degeneration 11.9
16 kuhnt-junius degeneration 11.5
17 adrenomyodystrophy 11.5
18 multiple familial trichoepithelioma 11.1 ARMS2 CFB CFH HTRA1
19 dolk-congenital disorder of glycosylation 11.1 C3 CFB CFHR1 CFHR3
20 endosalpingiosis 11.1 ARMS2 CFB CFH HTRA1
21 der kaloustian mcintosh silver syndrome 11.1 C3 CFB CFH
22 iliac vein thrombophlebitis 11.1 ARMS2 CFB CFH VEGFA VEGFB
23 basal laminar drusen 11.1 CFH FBLN5 HMCN1
24 chronic progressive external ophthalmoplegia 11.1 C3 CFB CFH CFHR1 CFHR3
25 rhizomelic chondrodysplasia punctata 11.1 ARMS2 C2 C3 CFB CFH EFEMP1
26 hemolytic uremic syndrome, atypical 1 11.1 CFH CFHR1 CFHR3
27 ventricular extrasystoles with syncope, perodactyly, and robin sequence 11.1 ABCA4 CFH VEGFA
28 placental choriocarcinoma 11.1 ABCA4 ARMS2 CFB CFH CFHR1 CFHR3
29 hereditary breast ovarian cancer 11.0 ABCA4 ARMS2 CFB CFH
30 histiocytic and dendritic cell cancer 11.0 ABCA4 ARMS2 C2 C3 CFB CFH
31 hypotrichosis 2 11.0 C2 CFB
32 uterine adnexa cancer 11.0 C3 CFH CFHR1
33 complement factor h deficiency 11.0 CFH CFHR1
34 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 11.0 ARMS2 CFH
35 glycogen storage disease ii 10.9
36 myopathy, centronuclear, autosomal recessive 10.9 EFEMP1 TIMP3
37 vaginal endometrial stromal sarcoma 10.8 C3 HTRA1
38 bone marrow failure syndrome 2 10.8
39 letterer-siwe disease 10.8
40 prostate carcinoma in situ 10.7 APOE CFH VEGFA
41 impetigo 10.5 ABCA4 EFEMP1 TIMP3
42 choroiditis 10.2
43 retinitis 10.1
44 eye disease 10.0
45 cataract 9.8
46 atherosclerosis 9.8

Comorbidity relations with Macular Degeneration, Age-Related, 1 via Phenotypic Disease Network (PDN): (show all 11)


Acute Cystitis Brain Small Vessel Disease with or Without Ocular Anomalies
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

Symptoms via clinical synopsis from OMIM:

54

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

Clinical features from OMIM:

603075

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

32
id Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529

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


angina pectoris, tremor, equilibration disorder

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 TIMP3 VEGFA VEGFB ABCA4 APOE C3
2 immune system MP:0005387 9.97 TIMP3 VEGFA APOE C3 CFB CFH
3 muscle MP:0005369 9.8 APOE C3 EFEMP1 ERCC6 FBLN5 TIMP3
4 pigmentation MP:0001186 9.55 ABCA4 APOE CFH EFEMP1 TIMP3
5 renal/urinary system MP:0005367 9.5 APOE C3 CFB CFH EFEMP1 TIMP3
6 vision/eye MP:0005391 9.36 ABCA4 APOE C3 CFH EFEMP1 ERCC6

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

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

(show top 50) (show all 290)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
2
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129497-78-5
3
Ephedrine Approved Phase 4,Phase 2,Phase 1 299-42-3 9294
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Norgestimate Approved Phase 4 35189-28-7 6540478
8
Pseudoephedrine Approved Phase 4,Phase 2,Phase 1 90-82-4 7028
9
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
10
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
12
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
13
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
14
Temazepam Approved Phase 4 846-50-4 5391
15
Copper Approved Phase 4 7440-50-8 27099
16
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
17
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
18
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
20
Difluprednate Approved Phase 4 23674-86-4 443936
21 Tocopherol Approved, Nutraceutical Phase 4,Phase 3
22
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-02-9 14985
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
25
Bromfenac Approved July 1997 Phase 4,Phase 2 91714-94-2 60726
26 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
31 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
32 Anti-Infective Agents Phase 4,Phase 2,Phase 1
33 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Contraceptive Agents Phase 4
35 Contraceptives, Oral Phase 4
36 Contraceptives, Oral, Combined Phase 4
37 Estradiol 17 beta-cypionate Phase 4
38 Estradiol 3-benzoate Phase 4
39 Estradiol valerate Phase 4 979-32-8
40 Fluoroquinolones Phase 4
41 Nasal Decongestants Phase 4,Phase 2,Phase 1
42 Norgestimate, ethinyl estradiol drug combination Phase 4
43 Nucleic Acid Synthesis Inhibitors Phase 4
44 Ophthalmic Solutions Phase 4,Phase 2,Phase 3,Phase 1
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
47 Polyestradiol phosphate Phase 4
48 Respiratory System Agents Phase 4,Phase 2,Phase 1
49 Tetrahydrozoline Phase 4,Phase 3,Phase 2,Phase 1
50 Topoisomerase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 592)

id Name Status NCT ID Phase Drugs
1 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)
2 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
3 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
4 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
5 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
6 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
7 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4 Ranibizumab
8 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
9 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
10 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
11 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
12 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
13 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4 Ranibizumab;Verteporfin;Verteporfin
14 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
15 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4 bevacizumab
16 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab
17 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
18 Comparison of Safety, Effectiveness and Quality of Life Outcomes Between Labeled Versus "Treat and Extend" Regimen in Turkish Patients With Choroidal Neovascularisation Due to Age-related Macular Degeneration (AMD) Completed NCT01148511 Phase 4 Ranibizumab 0.5 mg
19 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
20 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
21 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
22 Evaluation of Dosing Interval of Higher Doses of Ranibizumab Completed NCT00533520 Phase 4 ranibizumab
23 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4 intravitreal injection with ranibizumab
24 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
25 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
26 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
27 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)
28 Efficacy and Safety of Lucentis® (Ranibizumab Intravitreal Injections) in Chilean Patients With Diabetic Macular Edema. Completed NCT02140411 Phase 4 Ranibizumab Intravitreal injections
29 Study to Investigate the Safety and Efficacy of Ranibizumab in Patients With Choroidal Neovascularisation Due to Causes Other Than Age Related Macular Degeneration Completed NCT01628354 Phase 4 Ranibizumab
30 Prospective Randomized Controlled Treatment Trial for Chronic Central Serous Chorioretinopathy Completed NCT01797861 Phase 4
31 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4 aflibercept
32 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4 vitamin and mineral supplement;Escherichia coli Endotoxin (LPS);100% O2;nitroglycerin
33 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
34 Bromfenac BID Plus Prednisolone Acetate BID Versus Bromfenac BID Plus Prednisolone QID for the Prevention of Cystoid Macular Edema and Retinal Thickening Completed NCT00469781 Phase 4 2. Xibrom (Bromfenac);1. Pred Forte
35 Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
36 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 Recruiting NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
37 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Recruiting NCT02810808 Phase 4 Ranibizumab
38 Functional and Structural Outcomes in Neovascular Age-related Macular Degeneration Recruiting NCT02843490 Phase 4 Ranibizumab
39 Systemic VEGF Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Recruiting NCT02257632 Phase 4 Ranibizumab;Aflibercept
40 The IAI-OCTA Study; a Study of OCT-Angiography Analysis Efficacy Recruiting NCT03022292 Phase 4 Aflibercept Ophthalmic
41 Continuation of Previous Study to Gather More Data on Effect of Macugen on the Corneal Endothelium Recruiting NCT01573572 Phase 4 pegaptanib sodium injection
42 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Recruiting NCT02924987 Phase 4 Aflibercept Injection
43 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Recruiting NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
44 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Active, not recruiting NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
45 VITAL - Individualising Therapy for Neovascular AMD With Aflibercept Active, not recruiting NCT02441816 Phase 4 Aflibercept
46 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Not yet recruiting NCT02834663 Phase 4 Lucentis
47 PRedictive Factors and Changes From Treatment in Idiopathic Polypoidal Choroidal Vasuclopathy Versus Central Serous Chorioretinopathy Versus Neovascular Age Related Macular Degeneration With afLibercept Not yet recruiting NCT02681783 Phase 4 aflibercept
48 Topical Treatment for Uveitic Macular Edema Not yet recruiting NCT01939691 Phase 4 Difluprednate 0.05% ophthalmic emulsion;Nepafenac 0.1% ophthalmic solution;Prednisolone acetate 1% ophthalmic suspension
49 Lucentis Utilizing Visudyne (LUV Trial) Combination Therapy in the Treatment of Age-Related Macular Degeneration Terminated NCT00423189 Phase 4 Ranibizumab (Lucentis);0.5mg ranibizumab
50 TF (SENSIMED Triggerfish) in Intraocular Anti-VEGF (Vascular Endothelial Growth Factor) Injection Terminated NCT01983579 Phase 4

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 29 24 ABCA4 ARMS2 C2 C3 CFB CFH ERCC6 FBLN5 HMCN1 HTRA1 MT-ND2 RAX2
2 Age-Related Macular Degeneration 1 29 24 HMCN1
3 Macular Degeneration 29

Anatomical Context for Macular Degeneration, Age-Related, 1

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

39
Eye, Retina, Endothelial, Bone, Testes, 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:
id Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Potential therapeutic candidate, affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Potential therapeutic candidate, affected by disease
3 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Potential therapeutic candidate, affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Potential therapeutic candidate, affected by disease
6 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate

Publications for Macular Degeneration, Age-Related, 1

Variations for Macular Degeneration, Age-Related, 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
2 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
3 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
4 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
5 HMCN1 NM_031935.2(HMCN1): c.4163delC (p.Pro1388Hisfs) deletion Pathogenic rs879255520 GRCh37 Chromosome 1, 185970523: 185970523

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

7
id 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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.8 EFEMP1 FBLN5 HMCN1 OPTC TIMP3 VEGFA
2 extracellular region GO:0005576 9.8 APOE C2 C3 CFB CFH CFHR1
3 extracellular matrix GO:0031012 9.73 APOE EFEMP1 FBLN5 HMCN1 HTRA1 TIMP3
4 blood microparticle GO:0072562 9.63 APOE C3 CFB CFH CFHR1 CFHR3
5 extracellular space GO:0005615 9.44 APOE C2 C3 CFB CFH CFHR1
6 extracellular exosome GO:0070062 10.15 APOE C2 C3 CFB CFH CFHR1

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 ABCA4 EFEMP1 HMCN1 RAX2 TIMP3
2 platelet degranulation GO:0002576 9.63 TIMP3 VEGFA VEGFB
3 positive regulation of angiogenesis GO:0045766 9.61 C3 VEGFA VEGFB
4 artery morphogenesis GO:0048844 9.48 APOE VEGFA
5 induction of positive chemotaxis GO:0050930 9.4 VEGFA VEGFB
6 positive regulation of apoptotic cell clearance GO:2000427 9.37 C2 C3
7 regulation of complement activation GO:0030449 9.35 C2 C3 CFB CFH CFHR1
8 complement activation, alternative pathway GO:0006957 9.33 C3 CFB CFH
9 positive regulation of mast cell chemotaxis GO:0060754 9.32 VEGFA VEGFB
10 complement activation GO:0006956 9.02 C2 C3 CFB CFH CFHR1

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.56 C2 C3 CFB HTRA1
2 heparin binding GO:0008201 9.26 APOE CFH VEGFA VEGFB
3 vascular endothelial growth factor receptor 2 binding GO:0043184 9.16 VEGFA VEGFB
4 vascular endothelial growth factor receptor 1 binding GO:0043183 8.62 VEGFA VEGFB

Sources for Macular Degeneration, Age-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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