AMD
MCID: AGR001
MIFTS: 83

Age Related Macular Degeneration (AMD) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Age Related Macular Degeneration

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Age Related Macular Degeneration, also known as age-related macular degeneration, is related to atherosclerosis and blindness. An important gene associated with Age Related Macular Degeneration is APOE (apolipoprotein E), and among its related pathways are A-beta Uptake and Degradation and Angiogenesis. The drugs interferon alfa-2a and interferon alfa-2b and the compounds agarose and hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and endothelial, and related mouse phenotypes are pigmentation and liver/biliary system.

Disease Ontology:9 A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.

MedlinePlus:35 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

Wikipedia:66 Macular degeneration, often age-related macular degeneration (AMD or ARMD), is a medical condition that... more...

Description from OMIM:48 613784, 611488, 610149, 608895, 613778 613761, 153800, 603075, 610698, 611953, 613757, 611378 more

Aliases & Classifications for Age Related Macular Degeneration

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Sources:
34MalaCards, 9Disease Ontology, 11DISEASES, 32LifeMap Discoveryā„¢, 63UMLS, 44NIH Rare Diseases, 35MedlinePlus, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 28ICD9CM, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

age related macular degeneration 34 9 11 32 63
age-related macular degeneration 9 44 21 23 22
macular degeneration 34 9 44 11 35
age-related maculopathy 44 22 48
macular degeneration, age-related 22 48
amd 44 22
macular degeneration of retina, unspecified 9
senile macular retinal degeneration 9
disorder of macula of retina 63
macular degeneration, senile 46
senile macular degeneration 9
alveolar rhabdomyosarcoma 63
maculopathy age-related 46
armd 22
arm 44


Related Diseases for Age Related Macular Degeneration

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18GeneCards, 19GeneDecks
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Diseases related to Age Related Macular Degeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.9APOE, TIMP3, CX3CR1, C3
2blindness30.9VEGFA, TIMP3, CFH, HTRA1, PLEKHA1, ABCA4
3kuhnt-junius degeneration30.8HTRA1, PLEKHA1, VEGFA, CFH
4retinal drusen30.6CFH
5atypical hemolytic-uremic syndrome30.5CFHR3, CFHR1
6membranoproliferative glomerulonephritis30.5C3, CFH
7hemolytic-uremic syndrome30.5CFHR3, CFH, CFB, CFHR1
8coronary artery disease30.5C3, CX3CR1, APOE, CFH
9obesity30.4CFB, C3, APOE, CFH
10macular degeneration, age-related, reduced risk of30.4CFHR1, CFHR3
11rheumatoid arthritis30.4TIMP3, CX3CR1, C3, CFB, VEGFA
12choroiditis11.2
13retinitis11.2
14endotheliitis11.1
15eye disease10.9
16stargardt disease10.8
17charles bonnet syndrome10.7
18scotoma10.7
19cataract10.7
20age-related macular degeneration 110.7
21diabetic retinopathy10.7
22diabetic macular edema10.6
23glaucoma10.6
24retinal degeneration10.6
25central serous chorioretinopathy10.6
26macular dystrophy10.6
27refractive error10.5
28age-related macular degeneration 210.5
29age-related macular degeneration 810.5
30retinitis pigmentosa10.5
31vitelliform macular dystrophy10.5
32pneumonia10.5
33late-onset retinal degeneration10.5
34age-related macular degeneration 310.5
35age-related macular degeneration 410.5
36age-related macular degeneration 510.5
37age-related macular degeneration 610.5
38age-related macular degeneration 710.5
39age-related macular degeneration 910.5
40juvenile macular degeneration and hypotrichosis10.5
41alzheimer's disease10.4
42vitreous detachment10.4
43cutis laxa10.4
44hepatitis10.4
45myopia10.4
46retinal disease10.4
47uveitis10.4
48retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.4
49alopecia macular degeneration growth retardation10.3
50myopic macular degeneration10.3

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



Diseases related to age related macular degeneration

Symptoms for Age Related Macular Degeneration

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Sources:
48OMIM
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Clinical features from OMIM:

613784, 611488, 610149, 608895, 613778, 613761, 153800, 603075, 610698, 611953 613757, 611378 more

Drugs & Therapeutics for Age Related Macular Degeneration

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Age Related Macular Degeneration

Drug clinical trials:

Search ClinicalTrials for Age Related Macular Degeneration

Search NIH Clinical Center for Age Related Macular Degeneration

Search CenterWatch for Age Related Macular Degeneration

Inferred drug relations via UMLS63/NDF-RT42:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Age Related Macular Degeneration cell therapies at LifeMap Discovery.

Genetic Tests for Age Related Macular Degeneration

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21GeneTests, 23GTR
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Genetic tests related to Age Related Macular Degeneration:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration21 23 ARMS2, HMCN1, ERCC6, RAX2, C3, HTRA1, MT-ND2, C2, FBLN5, CFB (show all 12)

CFH, ABCA4

Anatomical Context for Age Related Macular Degeneration

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Age Related Macular Degeneration:

34
Retina, Eye, Endothelial, Bone, Testes, T cells, Brain, Kidney, Liver, Monocytes, Skin

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Age Related Macular Degeneration:
id TissueAnatomical CompartmentCell Relevance
1 EyeOuter Nuclear LayerMature L Cone Cells Potential therapeutic candidate, affected by disease
2 EyeOuter Nuclear LayerMature M Cone Cells Potential therapeutic candidate, affected by disease
3 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
4 EyeOuter Nuclear LayerMature Rod Cells Potential therapeutic candidate, affected by disease
5 EyeOuter Nuclear LayerMature S Cone Cells Potential therapeutic candidate, affected by disease
6 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate

Animal Models for Age Related Macular Degeneration or affiliated genes

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38MGI
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Publications for Age Related Macular Degeneration

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53PubMed
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Articles related to Age Related Macular Degeneration:

(show top 50)    (show all 1151)
idTitleAuthorsYear
1
Differential Vulnerability of Retinal Layers to Early Age-Related Macular Degeneration: Evidence by SD-OCT Segmentation Analysis. (24408984)
2014
2
Nutrients related to the incidence of early and late age-related macular degeneration. (24056822)
2013
3
Serum and macular responses to multiple xanthophyll supplements in patients with early age-related macular degeneration. (23312760)
2013
4
Genetic Susceptibility, Dietary Antioxidants, and Long-term Incidence of Age-related Macular Degeneration in Two Populations. (24290803)
2013
5
Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration. (23422939)
2013
6
PIGMENT EPITHELIAL TEARS ASSOCIATED WITH ANTI-VEGF THERAPY: Incidence, Long-term Visual Outcome, and Relationship with Pigment Epithelial Detachment in Age-related Macular Degeneration. (24296398)
2013
7
Visual performance in patients with neovascular age-related macular degeneration undergoing treatment with intravitreal ranibizumab. (23533703)
2013
8
Elevated norepinephrine may be an etiological factor in a wide range of diseases: age-related macular degeneration, systemic lupus erythematosus, atrial fibrillation, metabolic syndrome. (23410497)
2013
9
Costs of newly diagnosed neovascular age-related macular degeneration among medicare beneficiaries, 2004-2008. (23296047)
2013
10
Coding variants in ARMS2 and the risk of age-related macular degeneration. (23572227)
2013
11
Macular xanthophylls and I8-3 long-chain polyunsaturated fatty acids in age-related macular degeneration: a randomized trial. (23519529)
2013
12
Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration. (23582991)
2013
13
Comparative effectiveness of aflibercept for the treatment of patients with neovascular age-related macular degeneration. (23503202)
2013
14
Long-term blood pressure and age-related macular degeneration: the ALIENOR study. (23404120)
2013
15
Diabetes, diabetic retinopathy, and age-related macular degeneration: an unexpected relationship. (23470781)
2013
16
Maintenance therapy with pegaptanib sodium for neovascular age-related macular degeneration: an exploratory study in Japanese patients (LEVEL-J study). (23860781)
2013
17
Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population. (21790300)
2012
18
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. (22694956)
2012
19
Single nucleotide polymorphisms in MCP-1 and its receptor are associated with the risk of age related macular degeneration. (23185481)
2012
20
Patient awareness of binocular central scotoma in age-related macular degeneration. (22863789)
2012
21
Local vs. systemic mononuclear phagocytes in age-related macular degeneration and their regulation by CCL2-CCR2 and CX3CL1-CX3CR1 chemokine signalling. (22183310)
2012
22
Complement factor H Y402H variant and risk of age-related macular degeneration in Asians: a systematic review and meta-analysis. (20869121)
2011
23
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. (21297615)
2011
24
Charles Bonnet syndrome improves when treatment is effective in age-related macular degeneration. (20733019)
2011
25
CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. (20574013)
2010
26
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. (20660596)
2010
27
Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. (19850835)
2010
28
Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach. (20161521)
2009
29
A phase I study of intravitreal vascular endothelial growth factor trap-eye in patients with neovascular age-related macular degeneration. (19700196)
2009
30
Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. (19026638)
2009
31
Description of the Age-Related Eye Disease Study 9-step severity scale applied to participants in the Complications of Age-related Macular Degeneration Prevention Trial. (19752423)
2009
32
Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes. (18362109)
2008
33
Pegaptanib sodium for neovascular age-related macular degeneration: clinical experience in the UK. (19668726)
2008
34
HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. (18316707)
2008
35
Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. (18436811)
2008
36
Age-related macular degeneration is associated with the HLA-Cw*0701 Genotype and the natural killer cell receptor AA haplotype. (18515573)
2008
37
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
38
Association between dietary glycemic index and age-related macular degeneration in nondiabetic participants in the Age-Related Eye Disease Study. (17616779)
2007
39
Progress in defining the molecular biology of age related macular degeneration. (17659362)
2007
40
Molecular mechanism of choroidal neovascularization in age-related macular degeneration]. (18051818)
2007
41
A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration. (18079689)
2007
42
Pegaptanib in the treatment of wet, age-related macular degeneration. (17717967)
2006
43
Genetic aspects of age-related macular degeneration. (15947798)
2005
44
Treatment of neovascular age-related macular degeneration with Ranibizumab/Lucentis]. (15973626)
2005
45
Joint effects of smoking history and APOE genotypes in age-related macular degeneration. (16288198)
2005
46
CST3 genotype associated with exudative age related macular degeneration. (11815350)
2002
47
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (10798642)
2000
48
ABCR gene analysis in familial exudative age-related macular degeneration. (10634626)
2000
49
Oxidative damage and age-related macular degeneration. (10562656)
1999
50
Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. (9152225)
1997

Variations for Age Related Macular Degeneration

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Age Related Macular Degeneration:

65
id Symbol AA change Variation ID SNP ID
1HMCN1p.Gln5345ArgVAR_024818
2HMCN1p.Gln5345ArgVAR_024818

Expression for genes affiliated with Age Related Macular Degeneration

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Age Related Macular Degeneration

Search GEO for disease gene expression data for Age Related Macular Degeneration.

Pathways for genes affiliated with Age Related Macular Degeneration

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Sources:
51PathCards, 55R&D Systems, 5Cell Signaling Technology, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 61Thomson Reuters, 56Reactome, 58SinoBiological
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Pathways related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CX3CR1, APOE
2
Show member pathways
Angiogenesis39
9.9TIMP3, VEGFA
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.8CFH, CFB, C2, C3
49.8CFH, CFB, C2, C3
5
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
9.6C3, C2, CFHR3, CFB, CFH
6
Show member pathways
9.6CFH, CFB, CFHR3, C2, C3

Compounds for genes affiliated with Age Related Macular Degeneration

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose469.9CFB, TIMP3, C3
2hyaluronic acid46 2510.9APOE, VEGFA, CFH
3h2o2469.8ERCC6, PLEKHA1, HTRA1, APOE
4vitamin a46 25 1211.7ABCA4, APOE, C3
5vegf469.5CX3CR1, TIMP3, APOE, VEGFA, FBLN5
6serine469.4CFH, CFB, C2, APOE, HTRA1, C3
7lipid469.4ABCA4, APOE, TIMP3, MT-ND2, PLEKHA1, C3
8heparin46 30 25 1212.3C3, TIMP3, APOE, VEGFA, CFHR1, CFH

GO Terms for genes affiliated with Age Related Macular Degeneration

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17Gene Ontology
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Cellular components related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.5FBLN5, TIMP3, HTRA1, HMCN1
2blood microparticleGO:0725629.4CFH, C3, APOE, CFHR1, CFHR3, CFB
3extracellular regionGO:0055769.2CFH, CFB, FBLN5, VEGFA, C2, APOE
4extracellular spaceGO:0056158.7CFH, CFHR3, CFHR1, FBLN5, VEGFA, C2

Biological processes related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:04549410.1ERCC6, ABCA4
2complement activation, alternative pathwayGO:00695710.1C3, CFB, CFH
3regulation of complement activationGO:03044910.0CFH, CFB, C2, C3
4complement activationGO:0069569.7C3, C2, CFHR1, CFB, CFH
5artery morphogenesisGO:0488449.7APOE, VEGFA
6visual perceptionGO:0076019.7ABCA4, TIMP3, RAX2, HMCN1
7positive regulation of angiogenesisGO:0457669.7C3, CX3CR1, VEGFA
8G-protein coupled receptor signaling pathwayGO:0071869.6GPR75, APOE, CX3CR1, C3

Molecular functions related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00425210.0HTRA1, C2, CFB
2heparin bindingGO:0082019.6APOE, VEGFA, CFH

Products for genes affiliated with Age Related Macular Degeneration

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  • Antibodies
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Sources for Age Related Macular Degeneration

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet