ARMD1
MCID: MCL042
MIFTS: 73

Macular Degeneration, Age-Related, 1 (ARMD1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Skin diseases

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

Aliases & Descriptions for Macular Degeneration, Age-Related, 1:

Name: Macular Degeneration, Age-Related, 1 54 66 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
Age-Related Maculopathy 54 50 25
Armd1 12 24 66
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
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

Classifications:



Summaries for Macular Degeneration, Age-Related, 1

OMIM : 54 Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment... (603075) more...

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to macular degeneration, age-related, 4 and macular degeneration, age-related 5, and has symptoms including vision loss, progressive visual loss and angina pectoris. 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 Bevacizumab and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are Decreased viability with paclitaxel and homeostasis/metabolism

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 : 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.

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

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

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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, 3 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 top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 4 34.3 CFH CFHR1
2 macular degeneration, age-related 5 12.5
3 macular degeneration, age-related, 7 12.5
4 macular degeneration, age-related, 8 12.5
5 macular degeneration, age-related, 3 12.5
6 macular degeneration, age-related, 6 12.5
7 macular degeneration, age-related, 9 12.5
8 macular degeneration, age-related, 2 12.5
9 macular degeneration, age-related, 12 12.5
10 macular degeneration, age-related, 14, reduced risk of 12.5
11 macular degeneration, age-related, 10 12.5
12 macular degeneration, age-related, 11 12.5
13 macular degeneration, age-related, 13 12.5
14 macular degeneration, age-related, 15 12.5
15 stargardt macular degeneration 12.3
16 kuhnt-junius degeneration 11.5
17 adrenomyodystrophy 11.5
18 glycogen storage disease ii 10.9
19 bone marrow failure syndrome 2 10.8
20 letterer-siwe disease 10.8
21 multiple vertebral anomalies unusual facies 10.5 ARMS2 CFB CFH HTRA1
22 pdgfra-associated chronic eosinophilic leukemia 10.5 C3 CFB CFHR1 CFHR3
23 endosalpingiosis 10.5 ARMS2 CFB CFH HTRA1
24 hypogonadotropic hypogonadism 13 with or without anosmia 10.5 CFH FBLN5 HMCN1
25 hand, foot and mouth disease 10.5 ARMS2 CFB CFH VEGFA VEGFB
26 rhizomelic chondrodysplasia punctata 10.5 ARMS2 C2 C3 CFB CFH EFEMP1
27 chronic progressive external ophthalmoplegia 10.4 C3 CFB CFH CFHR1 CFHR3
28 cone-rod dystrophy 17 10.4 ARMS2 CFB CFH HTRA1 VEGFA VEGFB
29 desmoplastic small round cell tumor 10.4 C3 CFB CFH
30 complement factor h deficiency 10.4 CFH CFHR1 CFHR3
31 thymus adenosquamous carcinoma 10.4 ABCA4 ARMS2 C2 C3 CFB CFH
32 adult liposarcoma 10.4 ABCA4 ARMS2 CFB CFH
33 uterine adnexa cancer 10.4 C3 CFH CFHR1
34 placental choriocarcinoma 10.4 ABCA4 ARMS2 CFB CFH CFHR1 CFHR3
35 peeling skin syndrome 1 10.4 C2 CFB
36 acute ackee fruit intoxication 10.4 CFH EFEMP1
37 cataract 27, nuclear progressive 10.4 ABCA4 EFEMP1
38 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.4 ABCA4 APOE ARMS2 C2 C3 CFB
39 cerebral calcifications opalescent teeth phosphaturia 10.4 ARMS2 CFH
40 vitreoretinochoroidopathy 10.3 ABCA4 TIMP3
41 puerperal pulmonary embolism 10.3 ABCA4 EFEMP1 TIMP3
42 fountain syndrome 10.2 ABCA4 CFH
43 choroiditis 10.2
44 retinitis 10.1
45 senile cataract 10.0
46 cataract 10.0
47 open-angle glaucoma 9.8
48 refractive error 9.8
49 central serous chorioretinopathy 9.8
50 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

Clinical features from OMIM:

603075

Symptoms:

12
  • vision loss

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 homeostasis/metabolism MP:0005376 10.18 ABCA4 APOE C3 CFB CFH EFEMP1
2 cardiovascular system MP:0005385 10.17 ABCA4 APOE C3 CFH EFEMP1 FBLN5
3 immune system MP:0005387 10.07 APOE C3 CFB CFH EFEMP1 ERCC6
4 muscle MP:0005369 9.92 APOE C3 EFEMP1 ERCC6 FBLN5 PLEKHA1
5 renal/urinary system MP:0005367 9.7 APOE C3 CFB CFH EFEMP1 TIMP3
6 pigmentation MP:0001186 9.65 ABCA4 APOE CFH EFEMP1 TIMP3
7 skeleton MP:0005390 9.61 CFB EFEMP1 ERCC6 HTRA1 PLEKHA1 VEGFA
8 vision/eye MP:0005391 9.32 EFEMP1 ERCC6 HTRA1 TIMP3 VEGFA VEGFB

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 411)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
3
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
4
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
5
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
6
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
7
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
8
Norgestimate Approved Phase 4 35189-28-7 6540478
9
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
10
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
13
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
14
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
15
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
16
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
17
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 67-73-2 6215
18
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
19
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
20
Menthol Approved Phase 4 2216-51-5 16666
21
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
22
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
23
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
24
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
26
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
27
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
28
Timolol Approved Phase 4,Phase 2,Phase 3 26839-75-8 33624 5478
29
Travoprost Approved Phase 4 157283-68-6 5282226
30
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
31
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
32
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
33
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
34
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
35
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
36
Empagliflozin Approved Phase 4 864070-44-0
37
Glimepiride Approved Phase 4 93479-97-1 3476
38
Difluprednate Approved Phase 4 23674-86-4 443936
39
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
41
Lutein Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 127-40-2 6433159 5368396
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
43
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
44 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
45
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 54575, 6560146 143
46
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2,Phase 1 91714-94-2 60726
47
Maleic acid Experimental Phase 4 110-16-7 444266
48 Endothelial Growth Factors Phase 4,Phase 3,Phase 2,Phase 1
49 Mitogens Phase 4,Phase 3,Phase 2,Phase 1
50 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 1430)
id Name Status NCT ID Phase
1 Study to Evaluate Efficacy of Aflibercept in Neovascular Age-related Macular Degeneration Patients Non Responders to Anti-Vascular Endothelial Growth Factor Unknown status NCT01896284 Phase 4
2 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4
3 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
4 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
5 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
6 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4
7 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4
8 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
9 The Endurance 1 Trial Unknown status NCT02297204 Phase 4
10 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4
11 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4
12 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4
13 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
14 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
15 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4
16 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4
17 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4
18 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
19 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
20 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
21 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
22 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
23 Intravitreal Bevacizumab for Choridal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00556348 Phase 4
24 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4
25 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4
26 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4
27 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
28 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4
29 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4
30 Study to Assess Best Corrected Visual Acuity (BCVA) in Patients With Neovascular Age-Related Macular Degeneration (AMD) Who Are Administered VEGF Trap-Eye (Intravitreal Aflibercept Injection) Completed NCT01722045 Phase 4
31 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
32 Macular EpiRetinal Brachytherapy Versus Lucentis® Only Treatment (MERLOT) Completed NCT01006538 Phase 4
33 Indocyanine Angiographic Changes of Choroidal Neovascularization by Ranibizumab Completed NCT01810042 Phase 4
34 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
35 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
36 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
37 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4
38 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4
39 Photodynamic Therapy in Occult-Only Lesions (POOL) Completed NCT00135837 Phase 4
40 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
41 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
42 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4
43 Wet AMD Recurrence Rate in Patients Stable on Three Month Ranibizumab Dosing Completed NCT01453920 Phase 4
44 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
45 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4
46 Safety and Tolerability of Ranibizumab in Mono/Bilateral w-AMD Patients in Eyes With BCVA<2/10 and/or 2nd Affected Eye Completed NCT01986907 Phase 4
47 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4
48 A Long-Term Monitoring Study of the IMT-002 Patients Completed NCT00976235 Phase 4
49 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
50 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

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, Bone
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:

66
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 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
2 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
3 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 extracellular matrix GO:0031012 9.8 APOE EFEMP1 FBLN5 HMCN1 HTRA1 TIMP3
2 proteinaceous extracellular matrix GO:0005578 9.77 EFEMP1 FBLN5 HMCN1 TIMP3 VEGFA
3 extracellular region GO:0005576 9.77 APOE C2 C3 CFB CFH CFHR1
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 10.07 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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