MCID: RTN006
MIFTS: 37

Retinal Drusen malady

Summaries for Retinal Drusen

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46OMIM, 32MalaCards
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MalaCards: Retinal Drusen, also known as basal laminar drusen, is related to age related macular degeneration and retinitis. 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:46 126700

Aliases & Classifications for Retinal Drusen

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8Disease Ontology, 10DISEASES, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 56SNOMED-CT, 27ICD9CM, 34MeSH
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Aliases & Descriptions:

retinal drusen 8 10 60
basal laminar drusen 8 9 20 22 46 60


External Ids:

Disease Ontology8 DOID:2569
OMIM46 126700
ICD9CM27 362.57
MeSH34 D015593

Related Diseases for Retinal Drusen

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Retinal Drusen:



Diseases related to retinal drusen

Clinical Features for Retinal Drusen

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46OMIM
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Clinical features from OMIM:

126700

Clinical synopsis from OMIM:

126700

Drugs & Therapeutics for Retinal Drusen

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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32MalaCards
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MalaCards organs/tissues related to Retinal Drusen:

32
Retina, Kidney

Animal Models for Retinal Drusen or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Retinal Drusen:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5C3, ABCC6, EFEMP1, FHL1
2MP:00053678.2EFEMP1, ABCC6, CFB, CFH, C3
3MP:00053857.0FHL1, EFEMP1, ABCC6, ABRA, CFH, C3
4MP:00053767.0EFEMP1, ABCC6, ABRA, CFB, CFH, C3

Publications for Retinal Drusen

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50PubMed
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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
Disappearance of extramacular drusen after chronic retinal detachment. (22557885)
2012
3
A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. (23077403)
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
The Association between Dominant Macular Drusen and Central Retinal Artery Occlusion in Young Females with Cardiac Valve Disease. (21369470)
2008
10
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. (17460291)
2007
11
Apolipoprotein localization in isolated drusen and retinal apolipoprotein gene expression. (16799058)
2006
12
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (17167404)
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

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Expression for genes affiliated with Retinal Drusen

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

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Pathways for genes affiliated with Retinal Drusen

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51QIAGEN, 37NCBI BioSystems Database, 55SinoBiological, 53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Retinal Drusen

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44Novoseek
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Compounds related to Retinal Drusen according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose449.1C3, CFB, ABCC6

GO Terms for genes affiliated with Retinal Drusen

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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

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Sources for Retinal Drusen

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet