AMD
MCID: AGR001
MIFTS: 85

Age Related Macular Degeneration (AMD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Age Related Macular Degeneration

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NIH Rare Diseases:42 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: Age Related Macular Degeneration, also known as age-related macular degeneration, is related to kuhnt-junius degeneration and retinal drusen. 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 eye, retina and endothelial, and related mouse phenotypes are pigmentation and liver/biliary system.

Disease Ontology:8 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.

Genetics Home Reference:21 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.

MedlinePlus:33 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:65 Macular degeneration, often age-related macular degeneration (AMD or ARMD), is a medical condition that... more...

Descriptions from OMIM:46 613761, 608895, 610149, 153800, 610698 613757, 613778, 613784, 611953, 611378, 611488, 603075 more

Aliases & Classifications for Age Related Macular Degeneration

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Age Related Macular Degeneration, Aliases & Descriptions:

Name: Age Related Macular Degeneration 32 30 8 10 62
Age-Related Macular Degeneration 8 42 20 22 21
Macular Degeneration 32 8 42 10 33
Age-Related Maculopathy 42 21 46
Senile Macular Retinal Degeneration 8 62
Macular Degeneration, Age-Related 21 46
Amd 42 21
Macular Degeneration of Retina, Unspecified 8
 
Disorder of Macula of Retina 62
Macular Degeneration, Senile 44
Senile Macular Degeneration 8
Alveolar Rhabdomyosarcoma 62
Maculopathy Age-Related 44
Armd 21
Arm 42


Classifications:

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


Related Diseases for Age Related Macular Degeneration

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Diseases in the Age Related Macular Degeneration family:

Age-Related Macular Degeneration 1 Age-Related Macular Degeneration 2
Age-Related Macular Degeneration 3 Age-Related Macular Degeneration 4
Age-Related Macular Degeneration 5 Age-Related Macular Degeneration 6
Age-Related Macular Degeneration 7 Age-Related Macular Degeneration 8
Age-Related Macular Degeneration 9 Macular Degeneration, Age-Related, 12
Macular Degeneration, Age-Related, 13 Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11

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

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1kuhnt-junius degeneration31.3HTRA1, PLEKHA1, VEGFA, CFH
2retinal drusen31.2CFH
3atherosclerosis31.1APOE, TIMP3, CX3CR1, C3
4atypical hemolytic-uremic syndrome31.1CFHR3, CFHR1
5membranoproliferative glomerulonephritis31.0C3, CFH
6blindness31.0VEGFA, TIMP3, CFH, HTRA1, PLEKHA1, ABCA4
7macular degeneration, age-related, reduced risk of30.9CFHR1, CFHR3
8hemolytic-uremic syndrome30.9CFHR3, CFH, CFB, CFHR1
9obesity30.7CFB, C3, APOE, CFH
10rheumatoid arthritis30.6TIMP3, CX3CR1, C3, CFB, VEGFA
11choroiditis11.2
12retinitis11.2
13endotheliitis11.1
14eye disease10.9
15stargardt disease10.8
16charles bonnet syndrome10.8
17cataract10.7
18scotoma10.7
19age-related macular degeneration 110.7
20diabetic retinopathy10.7
21diabetic macular edema10.7
22retinal degeneration10.6
23central serous chorioretinopathy10.6
24refractive error10.6
25age-related macular degeneration 810.6
26macular dystrophy10.6
27complement factor h deficiency10.5CFH
28retinitis pigmentosa10.5
29vitelliform macular dystrophy10.5
30pneumonia10.5
31late-onset retinal degeneration10.5
32age-related macular degeneration 210.5
33age-related macular degeneration 310.5
34age-related macular degeneration 410.5
35age-related macular degeneration 510.5
36age-related macular degeneration 610.5
37age-related macular degeneration 710.5
38age-related macular degeneration 910.5
39juvenile macular degeneration and hypotrichosis10.5
40complement deficiency10.5C3
41progressive supranuclear palsy10.5APOE
42cone-rod dystrophy 210.4ABCA4, TIMP3
43alzheimer's disease10.4
44hepatitis10.4
45vitreous detachment10.4
46cutis laxa10.4
47myopia10.4
48retinal disease10.4
49uveitis10.4
50retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.4

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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Clinical features from OMIM:

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

Drugs & Therapeutics for Age Related Macular Degeneration

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Drug clinical trials:

Search ClinicalTrials for Age Related Macular Degeneration

Search NIH Clinical Center for Age Related Macular Degeneration

Inferred drug relations via UMLS62/NDF-RT40:

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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Genetic tests related to Age Related Macular Degeneration:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration20 22 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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MalaCards organs/tissues related to Age Related Macular Degeneration:

32
Eye, Retina, Endothelial, Bone, Testes, T cells, Brain, Kidney, Liver, Skin, Monocytes

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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Publications for Age Related Macular Degeneration

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Articles related to Age Related Macular Degeneration:

(show top 50)    (show all 1177)
idTitleAuthorsYear
1
Differential Vulnerability of Retinal Layers to Early Age-Related Macular Degeneration: Evidence by SD-OCT Segmentation Analysis. (24408984)
2014
2
Anterior Chamber Paracentesis Might Prevent Sustained Intraocular Pressure Elevation after Intravitreal Injections of Ranibizumab for Age-Related Macular Degeneration. (25401265)
2014
3
Nutrients related to the incidence of early and late age-related macular degeneration. (24056822)
2013
4
Serum and macular responses to multiple xanthophyll supplements in patients with early age-related macular degeneration. (23312760)
2013
5
Genetic Susceptibility, Dietary Antioxidants, and Long-term Incidence of Age-related Macular Degeneration in Two Populations. (24290803)
2013
6
Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration. (23422939)
2013
7
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
8
Visual performance in patients with neovascular age-related macular degeneration undergoing treatment with intravitreal ranibizumab. (23533703)
2013
9
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
10
Vascular disrupting agent for neovascular age related macular degeneration: a pilot study of the safety and efficacy of intravenous combretastatin A-4 phosphate. (23316779)
2013
11
Costs of newly diagnosed neovascular age-related macular degeneration among medicare beneficiaries, 2004-2008. (23296047)
2013
12
Coding variants in ARMS2 and the risk of age-related macular degeneration. (23572227)
2013
13
Macular xanthophylls and I8-3 long-chain polyunsaturated fatty acids in age-related macular degeneration: a randomized trial. (23519529)
2013
14
Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration. (23582991)
2013
15
Comparative effectiveness of aflibercept for the treatment of patients with neovascular age-related macular degeneration. (23503202)
2013
16
Long-term blood pressure and age-related macular degeneration: the ALIENOR study. (23404120)
2013
17
Diabetes, diabetic retinopathy, and age-related macular degeneration: an unexpected relationship. (23470781)
2013
18
Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population. (21790300)
2012
19
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. (22694956)
2012
20
Single nucleotide polymorphisms in MCP-1 and its receptor are associated with the risk of age related macular degeneration. (23185481)
2012
21
Patient awareness of binocular central scotoma in age-related macular degeneration. (22863789)
2012
22
Local vs. systemic mononuclear phagocytes in age-related macular degeneration and their regulation by CCL2-CCR2 and CX3CL1-CX3CR1 chemokine signalling. (22183310)
2012
23
Complement factor H Y402H variant and risk of age-related macular degeneration in Asians: a systematic review and meta-analysis. (20869121)
2011
24
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. (21297615)
2011
25
Charles Bonnet syndrome improves when treatment is effective in age-related macular degeneration. (20733019)
2011
26
CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. (20574013)
2010
27
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. (20660596)
2010
28
Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. (19850835)
2010
29
Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach. (20161521)
2009
30
A phase I study of intravitreal vascular endothelial growth factor trap-eye in patients with neovascular age-related macular degeneration. (19700196)
2009
31
Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. (19026638)
2009
32
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
33
Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes. (18362109)
2008
34
Pegaptanib sodium for neovascular age-related macular degeneration: clinical experience in the UK. (19668726)
2008
35
HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. (18316707)
2008
36
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
37
Age-related macular degeneration is associated with the HLA-Cw*0701 Genotype and the natural killer cell receptor AA haplotype. (18515573)
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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UniProtKB/Swiss-Prot genetic disease variations for Age Related Macular Degeneration:

64
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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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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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
Angiogenesis37
9.9TIMP3, VEGFA
3
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.8CFH, CFB, C2, C3
49.8CFH, CFB, C2, C3
5
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
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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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Age Related Macular Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose449.9TIMP3, C3, CFB
2hyaluronic acid44 2410.9APOE, VEGFA, CFH
3h2o2449.8PLEKHA1, APOE, ERCC6, HTRA1
4vitamin a44 24 1111.7C3, APOE, ABCA4
5vegf449.5FBLN5, VEGFA, APOE, TIMP3, CX3CR1
6serine449.4APOE, C3, HTRA1, CFH, C2, CFB
7lipid449.4PLEKHA1, MT-ND2, TIMP3, APOE, ABCA4, C3
8heparin44 28 24 1112.3C3, TIMP3, APOE, VEGFA, CFHR1, CFH

GO Terms for genes affiliated with Age Related Macular Degeneration

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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:04549410.1ABCA4, ERCC6
2complement activation, alternative pathwayGO:00695710.1CFH, CFB, C3
3regulation of complement activationGO:03044910.0C3, C2, CFB, CFH
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, VEGFA, CX3CR1
8G-protein coupled receptor signaling pathwayGO:0071869.6CX3CR1, APOE, GPR75, 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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Sources for Age Related Macular Degeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet