MCID: RTN006
MIFTS: 36

Retinal Drusen malady

Genetic diseases (common), Eye diseases categories
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Summaries for Retinal Drusen

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MalaCards based summary: Retinal Drusen, also known as basal laminar drusen, is related to age related macular degeneration and retinitis, and has symptoms including 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:46 126700

Aliases & Classifications for Retinal Drusen

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Retinal Drusen, Aliases & Descriptions:

Name: Retinal Drusen 8 10 62
 
Basal Laminar Drusen 8 9 20 22 46 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:2569
MeSH34 D015593
ICD9CM27 362.57
OMIM46 126700

Related Diseases for Retinal Drusen

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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 degeneration29.5C3, C2, CFB, CFH
2retinitis10.5
3complement deficiency10.2C3
4kidney disease10.1
5atypical hemolytic-uremic syndrome10.1CFB, CFH
6hemolytic-uremic syndrome10.0CFB, CFH
7membranoproliferative glomerulonephritis9.9CFH, C3
8nephritis9.9C3, CFB
9berger disease9.9C3, CFH
10glomerulonephritis9.8CFH, C3
11type 1 diabetes mellitus9.8C3, CFB
12coronary artery anomaly9.8C3, CFH
13primary hyperoxaluria9.7C3, CFH
14obesity9.7CFH, CFB, C3

Graphical network of diseases related to Retinal Drusen:



Diseases related to retinal drusen

Symptoms for Retinal Drusen

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Symptoms by clinical synopsis from OMIM:

126700

Clinical features from OMIM:

126700

HPO human phenotypes related to Retinal Drusen:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 progressive visual loss HP:0000529

Drugs & Therapeutics for Retinal Drusen

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Drug clinical trials:

Search ClinicalTrials for Retinal Drusen

Search NIH Clinical Center for Retinal Drusen

Genetic Tests for Retinal Drusen

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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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MalaCards organs/tissues related to Retinal Drusen:

32
Eye, Kidney

Animal Models for Retinal Drusen or affiliated genes

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MGI Mouse Phenotypes related to Retinal Drusen:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6C3, CFB, CFH

Publications for Retinal Drusen

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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

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Clinvar genetic disease variations for Retinal Drusen:

6
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.1204C= (p.His402=)single nucleotide variantPathogenicrs1061170GRCh37Chr 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

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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

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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 Pathway37
Complement and Coagulation Cascades37
8.1CFH, CFB, C2, C3
48.1CFH, CFB, C2, C3
5
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
8.1C3, C2, CFB, CFH

Compounds for genes affiliated with Retinal Drusen

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Sources:
44Novoseek
See all sources

Compounds related to Retinal Drusen according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose448.7C3, CFB
2glucose448.6C3, CFB, CFH
3serine448.0C3, C2, CFB, CFH

GO Terms for genes affiliated with Retinal Drusen

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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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet