MCID: MCL042
MIFTS: 72

Macular Degeneration, Age-Related, 1 malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Macular Degeneration, Age-Related, 1

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OMIM:45 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 retinal drusen and cone-rod dystrophy. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (hemicentin 1), and among its related pathways are Complement and coagulation cascades and Staphylococcus aureus infection. The drugs interferon alfa-2a and interferon alfa-2b and the compounds vitamin a and h2o2 have been mentioned in the context of this disorder. Affiliated tissues include lung, retina and eye, and related mouse phenotypes are other and muscle.

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.

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.

NIH Rare Diseases:41 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:32 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:63 Macular degeneration, often age-related macular degeneration (AMD or ARMD), is a medical condition that... more...

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

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

Name: Macular Degeneration, Age-Related, 1 45 20 22 30
Macular Degeneration 31 9 41 11 32 60
Age-Related Macular Degeneration 9 41 20 21 22
Age Related Macular Degeneration 31 30 9 11 60
Age-Related Maculopathy 45 41 21
Macular Degeneration, Age-Related 45 21
Amd 41 21
Macular Degeneration, Age-Related, Reduced Risk of 45
Macular Degeneration of Retina, Unspecified 9
 
Age-Related Maculopathy, Susceptibility to 10
Macular Degeneration, Age-Related, 2 60
Senile Macular Retinal Degeneration 9
Macular Degeneration, Senile 43
Senile Macular Degeneration 9
Maculopathy Age-Related 43
Armd 21
Arm 41


Classifications:

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


Related Diseases for Macular Degeneration, Age-Related, 1

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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, 10
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
Macular Degeneration, Age-Related, 15, Suscepbitility to Macular Degeneration, Age-Related 5

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

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1retinal drusen30.7CFH
2cone-rod dystrophy30.6ABCA4
3membranoproliferative glomerulonephritis30.5C3, CFH
4blindness30.4ABCA4, CFH, HTRA1, PLEKHA1
5kuhnt-junius degeneration30.4CFH, HTRA1, PLEKHA1
6hemolytic-uremic syndrome30.0CFH, CFB, CFHR3, CFHR1
7coronary artery disease30.0C3, APOE, CFH
8retinitis11.2
9endotheliitis11.1
10stargardt disease10.8
11charles bonnet syndrome10.8
12scotoma10.7
13stargardt macular degeneration10.7
14macular degeneration, age-related, 710.7
15macular degeneration, age-related 510.7
16diabetic macular edema10.7
17macular degeneration, age-related, 210.6
18macular degeneration, age-related, 410.6
19macular degeneration, age-related, 810.6
20macular degeneration, age-related, 310.6
21macular degeneration, age-related, 610.6
22macular degeneration, age-related, 910.6
23retinal degeneration10.6
24macular degeneration, age-related, 1210.6
25macular degeneration, age-related, 1010.6
26macular degeneration, age-related, 1110.6
27choroiditis10.6
28macular degeneration, age-related, 15, suscepbitility to10.6
29macular degeneration, age-related, 14, reduced risk of10.6
30juvenile macular degeneration and hypotrichosis10.5
31macular degeneration, age-related, 1310.5
32retinitis pigmentosa10.5
33vitreous detachment10.5
34pneumonia10.5
35retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.5
36macular degeneration, x-linked atrophic10.4
37hepatitis10.4
38cutis laxa10.4
39vitelliform macular dystrophy10.4
40myopia10.4
41retinal disease10.4
42thyroiditis10.4
43uveitis10.4
44complement deficiency10.4C3
45myopic macular degeneration10.4
46hemolytic uremic syndrome, atypical 110.4CFHR1, CFHR3
47mitochondrial disorders10.3MT-TL1
48alopecia macular degeneration growth retardation10.3
49stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features10.3
50tangier disease10.3APOE, ABCA4

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 1:



Diseases related to macular degeneration, age-related, 1

Symptoms for Macular Degeneration, Age-Related, 1

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Clinical features from OMIM:

603075

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

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Drug clinical trials:

Search ClinicalTrials for Macular Degeneration, Age-Related, 1

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

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Genetic Tests for Macular Degeneration, Age-Related, 1

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Genetic tests related to Macular Degeneration, Age-Related, 1:

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

2 Age-Related Macular Degeneration 120 22 HMCN1

Anatomical Context for Macular Degeneration, Age-Related, 1

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

31
Lung, Retina, Eye, Bone, Endothelial, Neutrophil, Smooth muscle, B cells, Brain, Adipocyte, T cells

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 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 Macular Degeneration, Age-Related, 1 or affiliated genes

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MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1C3, APOE, CFH
2MP:00053698.3FBLN5, APOE, PLEKHA1, C3, ERCC6
3MP:00053918.3ERCC6, C3, HTRA1, APOE, CFH, ABCA4
4MP:00053908.1CFB, APOE, HTRA1, PLEKHA1, C3, ERCC6
5MP:00053857.5ABCA4, CFH, FBLN5, APOE, HTRA1, PLEKHA1
6MP:00053766.8ABCA4, CFH, CFB, FBLN5, APOE, PLEKHA1

Publications for Macular Degeneration, Age-Related, 1

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Variations for Macular Degeneration, Age-Related, 1

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

62
id Symbol AA change Variation ID SNP ID
1HMCN1p.Gln5345ArgVAR_024818

Clinvar genetic disease variations for Macular Degeneration, Age-Related, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
2ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
3ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenic, risk factorrs61751374GRCh37Chr 1, 94508969: 94508969
4MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243

Expression for genes affiliated with Macular Degeneration, Age-Related, 1

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LifeMap Discovery
Genes differentially expressed in tissues of Macular Degeneration, Age-Related, 1 patients vs. healthy controls: 30 (show all 82)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1CD177CD177 moleculeBlood+8.410.000
2ZDHHC19zinc finger, DHHC-type containing 19Blood+6.910.000
3MMP8matrix metallopeptidase 8 (neutrophil collagenase)Blood+6.490.000
4SLC51Asolute carrier family 51, alpha subunitBlood+6.460.000
5HPhaptoglobinBlood+6.230.000
6GPR84G protein-coupled receptor 84Blood+5.860.000
7ANKRD22ankyrin repeat domain 22Blood+5.720.000
8OLAHoleoyl-ACP hydrolaseBlood+5.540.000
9PCOLCE2procollagen C-endopeptidase enhancer 2Blood+5.470.000
10C1QCcomplement component 1, q subcomponent, C chainBlood+5.420.000
11PFKFB26-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2Blood+5.390.000
12TNNC1troponin C type 1 (slow)Lung-5.280.000
13CCNA1cyclin A1Blood+5.140.000
14C1QBcomplement component 1, q subcomponent, B chainBlood+5.090.000
15LINC00668long intergenic non-protein coding RNA 668Blood+4.990.000
16CACNA1Ecalcium channel, voltage-dependent, R type, alpha 1E subunitBlood+4.980.000
17FGF13fibroblast growth factor 13Blood+4.960.000
18KLklothoBlood+4.740.000
19SLCO4A1solute carrier organic anion transporter family, member 4A1Blood+4.730.000
20AGERadvanced glycosylation end product-specific receptorLung-4.690.000
21MYO10myosin XBlood+4.680.000
22SLC1A3solute carrier family 1 (glial high affinity glutamate transporter), member 3Blood+4.680.000
23RETNresistinBlood+4.650.000
24WIF1WNT inhibitory factor 1Lung-4.600.000
25SOSTDC1sclerostin domain containing 1Lung-4.470.000
26CD274CD274 moleculeBlood+4.440.000
27C19orf59chromosome 19 open reading frame 59Blood+4.440.000
28BMXBMX non-receptor tyrosine kinaseBlood+4.410.000
29SERPINA1serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1Blood+4.380.000
30CEACAM1carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)Blood+4.380.000
31GRB10growth factor receptor-bound protein 10Blood+4.370.000
32FABP4fatty acid binding protein 4, adipocyteLung-4.320.000
33FOSBFBJ murine osteosarcoma viral oncogene homolog BLung-4.240.000
34LINC01220long intergenic non-protein coding RNA 1220Blood+4.200.000
35TMEM100transmembrane protein 100Lung-4.200.000
36LTFlactotransferrinBlood+4.190.000
37SLC26A8solute carrier family 26 (anion exchanger), member 8Blood+4.180.000
38CLEC3BC-type lectin domain family 3, member BLung-4.180.000
39FCN3ficolin (collagen/fibrinogen domain containing) 3Lung-4.170.000
40ARG1arginase 1Blood+4.170.000
41IL18R1interleukin 18 receptor 1Blood+4.170.000
42IL1R2interleukin 1 receptor, type IIBlood+4.080.000
43MT1Mmetallothionein 1MLung-4.070.000
44SLC2A11solute carrier family 2 (facilitated glucose transporter), member 11Blood+4.060.000
45CFHcomplement factor HBlood+4.030.000
46G0S2G0/G1switch 2Blood+4.020.000
47MMP9matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)Blood+3.970.000
48FCARFc fragment of IgA, receptor forBlood+3.940.000
49SCN9Asodium channel, voltage-gated, type IX, alpha subunitBlood+3.940.000
50FAM20Afamily with sequence similarity 20, member ABlood+3.940.000
51KRTAP19-6keratin associated protein 19-6Blood+3.930.000
52TDRD9tudor domain containing 9Blood+3.920.000
53KREMEN1kringle containing transmembrane protein 1Blood+3.860.000
54HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7Blood+3.840.000
55CR1complement component (3b/4b) receptor 1 (Knops blood group)Blood+3.830.000
56VNN1vanin 1Blood+3.820.000
57COL17A1collagen, type XVII, alpha 1Blood+3.810.000
58SLAMF8SLAM family member 8Blood+3.790.000
59BATF2basic leucine zipper transcription factor, ATF-like 2Blood+3.760.000
60C1QAcomplement component 1, q subcomponent, A chainBlood+3.750.000
61CLIC5chloride intracellular channel 5Lung-3.650.000
62ADIRFadipogenesis regulatory factorLung-3.650.000
63RAMP2receptor (G protein-coupled) activity modifying protein 2Lung-3.620.000
64HIGD1BHIG1 hypoxia inducible domain family, member 1BLung-3.600.000
65STXBP6syntaxin binding protein 6 (amisyn)Lung-3.590.000
66EFCC1EF-hand and coiled-coil domain containing 1Lung-3.470.000
67MFAP4microfibrillar-associated protein 4Lung-3.470.000
68TCF21transcription factor 21Lung-3.380.000
69CA4carbonic anhydrase IVLung-3.380.000
70CYP4B1cytochrome P450, family 4, subfamily B, polypeptide 1Lung-3.330.000
71MMP9matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)Blood+3.310.000
72GPM6Aglycoprotein M6ALung-3.300.000
73IL1RL1interleukin 1 receptor-like 1Lung-3.210.000
74PKNOX2PBX/knotted 1 homeobox 2Lung-3.210.000
75ABCA8ATP-binding cassette, sub-family A (ABC1), member 8Lung-3.170.000
76SCGB1A1secretoglobin, family 1A, member 1 (uteroglobin)Lung-3.170.000
77FIGFc-fos induced growth factor (vascular endothelial growth factor D)Lung-3.140.000
78SGCGsarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)Lung-3.100.000
79C1QBcomplement component 1, q subcomponent, B chainBlood+3.100.000
80ADAMTS8ADAM metallopeptidase with thrombospondin type 1 motif, 8Lung-3.080.000
81SFTPDsurfactant protein DLung-3.070.000
82MARCOmacrophage receptor with collagenous structureLung-3.070.000

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 1.

Pathways for genes affiliated with Macular Degeneration, Age-Related, 1

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.2CFB, C2, C3, CFH
28.2CFB, C2, C3, CFH
3
Show member pathways
8.0CFH, CFB, CFHR3, C2, C3
4
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
8.0C3, C2, CFHR3, CFB, CFH

Compounds for genes affiliated with Macular Degeneration, Age-Related, 1

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1vitamin a43 24 1211.6C3, APOE, ABCA4
2h2o2439.0APOE, HTRA1, PLEKHA1, ERCC6
3heparin43 28 24 1211.9CFH, CFHR1, APOE, C3
4cholesterol43 28 24 1211.8C3, APOE, CFH, ABCA4
5lipid438.4ABCA4, APOE, MT-ND2, PLEKHA1, C3
6serine437.7C3, HTRA1, APOE, C2, CFB, CFH

GO Terms for genes affiliated with Macular Degeneration, Age-Related, 1

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Cellular components related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.4HMCN1, HTRA1, FBLN5
2blood microparticleGO:00725628.0C3, CFH, CFB, CFHR3, CFHR1, APOE
3extracellular regionGO:00055767.2CFH, CFB, FBLN5, C2, APOE, C3
4extracellular spaceGO:00056157.2CFH, CFHR3, CFHR1, FBLN5, C2, APOE

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:004549410.0ABCA4, ERCC6
2response to stimulusGO:00508969.9HMCN1, RAX2
3visual perceptionGO:00076019.7HMCN1, RAX2, ABCA4
4complement activation, classical pathwayGO:00069589.4C3, C2
5complement activation, alternative pathwayGO:00069578.8C3, CFB, CFH
6regulation of complement activationGO:00304498.4CFH, CFB, C2, C3
7complement activationGO:00069568.2C3, C2, CFHR1, CFB, CFH
8innate immune responseGO:00450878.1CFH, CFB, C2, C3

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.0HTRA1, C2, CFB

Products for genes affiliated with Macular Degeneration, Age-Related, 1

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Sources for Macular Degeneration, Age-Related, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet