MCID: RTN006
MIFTS: 36

Retinal Drusen malady

Genetic diseases (common), Eye diseases categories

Summaries for Retinal Drusen

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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 Pertussis and Creation of C4 and C2 activators. The compounds agarose and glucose have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related mouse phenotype renal/urinary system.

Description from OMIM:48 126700

Aliases & Classifications for Retinal Drusen

About this section
Sources:
9Disease Ontology, 10diseasecard, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 63UMLS, 59SNOMED-CT, 36MeSH, 28ICD9CM
See all sources

Classifications:

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


Aliases & Descriptions:

retinal drusen 9 11 63
basal laminar drusen 9 10 21 23 48 63


External Ids:

Disease Ontology9 DOID:2569
MeSH36 D015593
OMIM48 126700
ICD9CM28 362.57

Related Diseases for Retinal Drusen

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Retinal Drusen via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1age related macular degeneration30.0C3, C2, CFB, CFH
2retinitis10.5
3kidney disease10.1
4complement deficiency10.0C3
5atypical hemolytic-uremic syndrome10.0CFB, CFH
6hemolytic-uremic syndrome10.0CFB, CFH
7membranoproliferative glomerulonephritis10.0CFH, C3
8nephritis10.0C3, CFB
9iga glomerulonephritis10.0C3, CFH
10type 1 diabetes mellitus10.0C3, CFB
11glomerulonephritis10.0CFH, C3
12coronary artery disease10.0C3, CFH
13primary hyperoxaluria9.9C3, CFH
14obesity9.9CFH, CFB, C3

Graphical network of diseases related to Retinal Drusen:



Diseases related to retinal drusen

Symptoms for Retinal Drusen

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

126700

Clinical features from OMIM:

126700

Drugs & Therapeutics for Retinal Drusen

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Retinal Drusen:

id Genetic test Affiliating Genes
1 Basal Laminar Drusen21 23 CFH

Anatomical Context for Retinal Drusen

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Retinal Drusen:

34
Eye, Kidney

Animal Models for Retinal Drusen or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Retinal Drusen:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6C3, CFB, CFH

Publications for Retinal Drusen

About this section
Sources:
53PubMed
See all sources

Articles related to Retinal Drusen:

idTitleAuthorsYear
1
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. (22053834)
2011
2
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. (18936151)
2009
3
Retinal drusen: harbingers of age, safe havens for trouble. (19726434)
2009
4
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. (17460291)
2007
5
New developments in retinal drusen. (9692044)
1998

Variations for Retinal Drusen

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Retinal Drusen:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.1204C= (p.His402=)single nucleotide variantPathogenic, risk factorrs1061170GRCh37Chr 1, 196659237: 196659237
2CFHNM_000186.3(CFH): c.1222C> T (p.Gln408Ter)single nucleotide variantPathogenicrs121913061GRCh37Chr 1, 196659255: 196659255
3CFHNM_000186.3(CFH): c.3234G> T (p.Arg1078Ser)single nucleotide variantPathogenicrs121913062GRCh37Chr 1, 196712682: 196712682
4CFHNM_000186.3(CFH): c.350+6T> Gsingle nucleotide variantPathogenicrs387906550GRCh37Chr 1, 196643098: 196643098

Expression for genes affiliated with Retinal Drusen

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 58SinoBiological
See all sources

Pathways related to Retinal Drusen according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1C3, C2
2
Show member pathways
8.1C3, C2, CFB, CFH
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
8.1CFH, CFB, C2, C3
48.1CFH, CFB, C2, C3
5
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
8.1C3, C2, CFB, CFH

Compounds for genes affiliated with Retinal Drusen

About this section
Sources:
46Novoseek
See all sources

Compounds related to Retinal Drusen according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose468.7C3, CFB
2glucose468.6C3, CFB, CFH
3serine468.0C3, C2, CFB, CFH

GO Terms for genes affiliated with Retinal Drusen

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Retinal Drusen according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.7C3, C2, CFH
2blood microparticleGO:0725628.5C3, CFB, CFH
3extracellular regionGO:0055767.8CFH, CFB, C2, C3

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

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:0069589.1C3, C2
2complement activation, alternative pathwayGO:0069578.5CFH, CFB, C3
3regulation of complement activationGO:0304498.2C3, C2, CFB, CFH
4complement activationGO:0069568.1C3, C2, CFB, CFH
5innate immune responseGO:0450877.8C3, C2, CFB, CFH

Molecular functions related to Retinal Drusen according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.3C2, CFB

Products for genes affiliated with Retinal Drusen

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Drusen

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet