MCID: OPT001
MIFTS: 27

Optic Disk Drusen malady

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Optic Disk Drusen

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Aliases & Descriptions for Optic Disk Drusen:

Name: Optic Disk Drusen 10 12 36 65
Optic Nerve Head Drusen 10
 
Drusen of Optic Disc 10
Drusen Optic Disc 47

Classifications:



External Ids:

Disease Ontology10 DOID:13561
ICD1027 H47.32
SNOMED-CT59 33629003
ICD9CM29 377.21
MeSH36 D015594
UMLS65 C0029128

Summaries for Optic Disk Drusen

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Wikipedia:68 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

MalaCards based summary: Optic Disk Drusen, also known as optic nerve head drusen, is related to microphthalmia, isolated 5 and pseudopapilledema. An important gene associated with Optic Disk Drusen is MFRP (Membrane Frizzled-Related Protein). Affiliated tissues include eye, skin and retina, and related mouse phenotype pigmentation.

Related Diseases for Optic Disk Drusen

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Graphical network of the top 20 diseases related to Optic Disk Drusen:



Diseases related to optic disk drusen

Symptoms for Optic Disk Drusen

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Drugs & Therapeutics for Optic Disk Drusen

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Video Diversion During Fundoscopic Exam in ChildrenCompletedNCT01673815
2Retinal Neurodegenerative Signs in Alzheimer's DiseasesRecruitingNCT01555827
3Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human EyeRecruitingNCT01348672

Search NIH Clinical Center for Optic Disk Drusen


Cochrane evidence based reviews: optic disk drusen

Genetic Tests for Optic Disk Drusen

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Anatomical Context for Optic Disk Drusen

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MalaCards organs/tissues related to Optic Disk Drusen:

33
Eye, Skin, Retina, Kidney, Thyroid

Animal Models for Optic Disk Drusen or affiliated genes

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MGI Mouse Phenotypes related to Optic Disk Drusen:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CRB1, MFRP, NOTCH1, RS1

Publications for Optic Disk Drusen

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Articles related to Optic Disk Drusen:

(show all 18)
idTitleAuthorsYear
1
Optic disk drusen in children. (27033945)
2016
2
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. (26296786)
2015
3
PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE. (26444522)
2015
4
EFFICACY OF TOPICAL DORZOLAMIDE THERAPY FOR CYSTOID MACULAR EDEMA IN A PATIENT WITH MFRP-RELATED NANOPHTHALMOS-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISK DRUSEN SYNDROME. (25383852)
2014
5
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. (25266841)
2014
6
Visual field defects due to optic disk drusen in children. (23733034)
2013
7
Nonarteritic anterior ischemic optic neuropathy in a child with optic disk drusen. (22525184)
2012
8
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. (21641251)
2011
9
Acquired myelinated nerve fibers in association with optic disk drusen. (21094066)
2010
10
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. (18554571)
2008
11
Optic disk drusen. (12504737)
2002
12
Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. (11812439)
2002
13
Sonography in optic disk drusen. (7863921)
1995
14
Sonography in optic disk drusen: imaging findings and role in diagnosis when funduscopic findings are normal. (8273656)
1994
15
Central vision impairment from optic disk drusen in the young. (2079912)
1990
16
Optic disk drusen and pseudotumor cerebri. (2456017)
1988
17
Case report. Optic disk drusen. (7076930)
1982
18
Optic disk drusen with central retinal artery occlusion. (7109330)
1982

Variations for Optic Disk Drusen

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Expression for genes affiliated with Optic Disk Drusen

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Search GEO for disease gene expression data for Optic Disk Drusen.

Pathways for genes affiliated with Optic Disk Drusen

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GO Terms for genes affiliated with Optic Disk Drusen

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Sources for Optic Disk Drusen

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet