MCID: RTN006
MIFTS: 30

Retinal Drusen malady

Summaries for Retinal Drusen

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47OMIM, 33MalaCards
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MalaCards: Retinal Drusen, also known as basal laminar drusen, is related to hepatitis b and antiphospholipid syndrome. An important gene associated with Retinal Drusen is CFH (complement factor H), and among its related pathways are Classical Complement Pathway and Immune System. The compound agarose have been mentioned in the context of this disorder. Affiliated tissues include retina and kidney, and related mouse phenotypes are other and renal/urinary system.

Description from OMIM:47 126700

Aliases & Classifications for Retinal Drusen

Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

retinal drusen 8 10 61
basal laminar drusen 8 9 20 22 47 61


External Ids:

Disease Ontology8 DOID:2569
OMIM47 126700
ICD9CM27 362.57
MeSH35 D015593

Related Diseases for Retinal Drusen

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Retinal Drusen:



Diseases related to retinal drusen

Clinical Features for Retinal Drusen

Sources:
47OMIM
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Clinical features from OMIM:

126700

Clinical synopsis from OMIM:

126700

Drugs & Therapeutics for Retinal Drusen

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinal Drusen

Drug clinical trials:

Search ClinicalTrials for Retinal Drusen

Search NIH Clinical Center for Retinal Drusen

Search CenterWatch for Retinal Drusen

Genetic Tests for Retinal Drusen

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20GeneTests, 22GTR
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Genetic tests related to Retinal Drusen:

id Genetic test Affiliating Genes
1 Basal Laminar Drusen20 22 CFH

Anatomical Context for Retinal Drusen

Sources:
33MalaCards
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MalaCards organs/tissues related to Retinal Drusen:

33
Retina, Kidney

Animal Models for Retinal Drusen or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Retinal Drusen:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5FHL1, EFEMP1, ABCC6, C3
2MP:00053678.2C3, CFH, CFB, ABCC6, EFEMP1
3MP:00053857.0C3, FHL1, CFH, ABRA, ABCC6, EFEMP1
4MP:00053767.0ABCC6, C3, CFH, CFB, FHL1, ABRA

Publications for Retinal Drusen

Sources:
51PubMed
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Articles related to Retinal Drusen:

(show all 22)
idTitleAuthorsYear
1
Thinner choroid and greater drusen extent in retinal angiomatous proliferation than in typical exudative age-related macular degeneration. (23317655)
2013
2
Outer retinal atrophy after regression of subretinal drusenoid deposits as a newly recognized form of late age-related macular degeneration. (23764969)
2013
3
Disappearance of extramacular drusen after chronic retinal detachment. (22557885)
2012
4
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. (22053834)
2011
5
Bestrophin detected in the basal membrane of the retinal epithelium and drusen of monkeys with drusenoid maculopathy. (19421767)
2009
6
Autophagy and exosomes in the aged retinal pigment epithelium: possible relevance to drusen formation and age-related macular degeneration. (19129916)
2009
7
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. (18936151)
2009
8
Retinal drusen: harbingers of age, safe havens for trouble. (19726434)
2009
9
Sub-retinal drusenoid deposits in human retina: organization and composition. (18721807)
2008
10
The Association between Dominant Macular Drusen and Central Retinal Artery Occlusion in Young Females with Cardiac Valve Disease. (21369470)
2008
11
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. (17460291)
2007
12
Apolipoprotein localization in isolated drusen and retinal apolipoprotein gene expression. (16799058)
2006
13
Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis). (16099945)
2005
14
Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. (11384575)
2001
15
Drug or drusen? Central retinal vein occlusion in a young healthy woman with disc drusen. (11027015)
2000
16
Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells. (10064614)
1999
17
Central retinal artery occlusion and optic disc drusen. (9775256)
1998
18
Comet-tailed drusen of the retinal pigment epithelium in angioid streaks. (10325991)
1998
19
New developments in retinal drusen. (9692044)
1998
20
Bilateral buried optic nerve drusen presenting with central retinal artery occlusion at high altitude. (8849557)
1995
21
Optic disk drusen with central retinal artery occlusion. (7109330)
1982
22
Correlation of clinicopathologic findings in a patient. Congenital night blindness, branch retinal vein occlusion, cilioretinal artery, drusen of the optic nerve head, and intraretinal pigmented lesion. (309759)
1978

Genetic Variations for Retinal Drusen

Expression for genes affiliated with Retinal Drusen

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Drusen

Search GEO for disease gene expression data for Retinal Drusen.

Pathways for genes affiliated with Retinal Drusen

Sources:
52QIAGEN, 38NCBI BioSystems Database, 56SinoBiological, 54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Retinal Drusen

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45Novoseek
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Compounds related to Retinal Drusen according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose459.1C3, CFB, ABCC6

GO Terms for genes affiliated with Retinal Drusen

Sources:
16Gene Ontology
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Cellular components related to Retinal Drusen according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.0C3, CFH, C2, EFEMP1
2extracellular regionGO:0055768.3C3, CFH, CFB, C2, EFEMP1

Biological processes related to Retinal Drusen according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:0069589.7C3, C2
2complement activation, alternative pathwayGO:0069579.4CFB, CFH, C3
3regulation of complement activationGO:0304499.2C3, CFH, CFB, C2
4complement activationGO:0069569.1C3, CFH, CFB, C2
5visual perceptionGO:0076018.8ABCC6, IMPG1, EFEMP1
6innate immune responseGO:0450878.7C2, CFB, CFH, C3

Products for genes affiliated with Retinal Drusen

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Drusen

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet