Aliases & Classifications for Retinal Drusen

MalaCards integrated aliases for Retinal Drusen:

Name: Retinal Drusen 12 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2569
ICD9CM 35 362.57
MeSH 44 D015593
UMLS 73 C0035312

Summaries for Retinal Drusen

MalaCards based summary : Retinal Drusen is related to basal laminar drusen and macular degeneration, age-related, 1. An important gene associated with Retinal Drusen is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and kidney, and related phenotype is renal/urinary system.

Related Diseases for Retinal Drusen

Graphical network of the top 20 diseases related to Retinal Drusen:



Diseases related to Retinal Drusen

Symptoms & Phenotypes for Retinal Drusen

MGI Mouse Phenotypes related to Retinal Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 C3 CFB CFH EFEMP1

Drugs & Therapeutics for Retinal Drusen

Drugs for Retinal Drusen (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Not Applicable 216974-75-3
2 Angiogenesis Inhibitors Not Applicable
3 Angiogenesis Modulating Agents Not Applicable
4 Endothelial Growth Factors Not Applicable
5 Mitogens Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Population-based Study of Macular Choroidal Neovascularization in a Chinese Population Completed NCT01666821
2 "Stop Early Age-related Macular Degeneration (AMD) From Vision Loss Eternally" Study Recruiting NCT02960828 Not Applicable intravitreal Anti-VEGF injection
3 Non-Damaging Photothermal Therapy of Non-exudative Age Related Macular Degeneration Recruiting NCT02569892 Not Applicable

Search NIH Clinical Center for Retinal Drusen

Cochrane evidence based reviews: retinal drusen

Genetic Tests for Retinal Drusen

Anatomical Context for Retinal Drusen

MalaCards organs/tissues related to Retinal Drusen:

41
Eye, Endothelial, Kidney

Publications for Retinal Drusen

Articles related to Retinal Drusen:

# Title Authors Year
1
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME. ( 29979251 )
2018
2
Multimodal imaging of small hard retinal drusen in young healthy adults. ( 29051326 )
2018
3
Aquaporin-1 Expression in Retinal Pigment Epithelial Cells Overlying Retinal Drusen. ( 26871693 )
2016
4
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. ( 22053834 )
2011
5
Retinal drusen: harbingers of age, safe havens for trouble. ( 19726434 )
2009
6
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. ( 18936151 )
2009
7
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. ( 17460291 )
2007
8
New developments in retinal drusen. ( 9692044 )
1998

Variations for Retinal Drusen

Expression for Retinal Drusen

Search GEO for disease gene expression data for Retinal Drusen.

Pathways for Retinal Drusen

GO Terms for Retinal Drusen

Cellular components related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 C2 C3 CFB CFH EFEMP1 FBLN5
2 blood microparticle GO:0072562 9.43 C3 CFB CFH
3 extracellular region GO:0005576 9.43 C2 C3 CFB CFH EFEMP1 FBLN5
4 extracellular space GO:0005615 9.1 C2 C3 CFB CFH EFEMP1 FBLN5

Biological processes related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.62 C2 C3 CFB CFH
2 regulation of complement activation GO:0030449 9.46 C2 C3 CFB CFH
3 positive regulation of apoptotic cell clearance GO:2000427 9.26 C2 C3
4 complement activation GO:0006956 9.26 C2 C3 CFB CFH
5 complement activation, alternative pathway GO:0006957 8.8 C3 CFB CFH

Molecular functions related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 C2 C3 CFB

Sources for Retinal Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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