MCID: OPT001
MIFTS: 25

Optic Disk Drusen malady

Neuronal diseases, Eye diseases categories

Aliases & Classifications for Optic Disk Drusen

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Sources:
10Disease Ontology, 12DISEASES, 65UMLS, 36MeSH, 47Novoseek, 29ICD9CM, 59SNOMED-CT
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Aliases & Descriptions for Optic Disk Drusen:

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


Classifications:



External Ids:

Disease Ontology10 DOID:13561
MeSH36 D015594
SNOMED-CT59 33629003
ICD9CM29 377.21

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 papilledema and pseudopapilledema. An important gene associated with Optic Disk Drusen is MFRP (Membrane Frizzled-Related Protein). Affiliated tissues include eye.

Related Diseases for Optic Disk Drusen

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Diseases related to Optic Disk Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1papilledema10.6
2pseudopapilledema10.5
3microphthalmia, isolated 510.5
4choroiditis10.5
5angioid streaks10.3
6calcinosis10.3
7intracranial hypertension10.3
8malignant hypertension10.3
9familial tumoral calcinosis10.3
10tumoral calcinosis10.3
11nonarteritic anterior ischemic optic neuropathy10.3
12cataract10.3
13ischemic optic neuropathy10.3
14central retinal artery occlusion10.3
15pseudotumor cerebri10.3
16poems syndrome10.3
17adams-oliver syndrome10.3
18melanoma10.3
19neuropathy10.3
20retinal artery occlusion10.3
21retinitis10.3
22uveal melanoma10.3
23oliver syndrome10.3
24macular dystrophy, dominant cystoid10.2KCNMA1, MFRP
25type i ehlers-danlos syndrome10.2ABCC6, GALNT3
26elective mutism10.2ABCC6, ELN
27rh deficiency syndrome10.2ABCC6, GALNT3
28nerve plexus neoplasm10.2GALNT3, NOTCH1
29alcoholic neuropathy10.1GALNT3, KANTR
30retroperitoneal hemangiopericytoma10.1ELN, NOTCH1
31sympathetic ophthalmia10.1ELN, KANTR
32alcoholic pancreatitis10.1KANTR, NOTCH1
33mixed astrocytoma-ependymoma-oligodendroglioma10.1KANTR, NOTCH1
34malignant cardiac peripheral nerve sheath neoplasm10.1KANTR, NOTCH1
35meckel's diverticulum cancer10.1KANTR, NOTCH1
36common peroneal nerve lesion10.1KANTR, NOTCH1
37tic disorder10.1KANTR, NOTCH1
38kidney rhabdoid cancer10.1KANTR, NOTCH1
39fungal meningitis10.1CRB1, ELN
40penis papillary carcinoma10.1KANTR, NOTCH1
41functional gastric disease10.1KANTR, KCNMA1
42mononeuritis of upper limb and mononeuritis multiplex10.1KANTR, NOTCH1
43extratemporal epilepsy10.0KANTR, KCNMA1
44hemangioma10.0ELN, NOTCH1
45skull base neoplasm10.0KANTR, NOTCH1
46leukocyte disease10.0KANTR, NOTCH1
47aortic valve disease 110.0ELN, NOTCH1
48acquired hemangioma10.0KANTR, UBL4A
49associative agnosia10.0CA3, KANTR
50glandular cystitis9.8ELN, UBL4A

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

Animal Models for Optic Disk Drusen or affiliated genes

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Publications for Optic Disk Drusen

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Articles related to Optic Disk Drusen:

(show all 16)
idTitleAuthorsYear
1
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. (26296786)
2015
2
PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE. (26444522)
2015
3
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. (25266841)
2014
4
Visual field defects due to optic disk drusen in children. (23733034)
2013
5
Nonarteritic anterior ischemic optic neuropathy in a child with optic disk drusen. (22525184)
2012
6
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. (21641251)
2011
7
Acquired myelinated nerve fibers in association with optic disk drusen. (21094066)
2010
8
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. (18554571)
2008
9
Optic disk drusen. (12504737)
2002
10
Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. (11812439)
2002
11
Sonography in optic disk drusen. (7863921)
1995
12
Sonography in optic disk drusen: imaging findings and role in diagnosis when funduscopic findings are normal. (8273656)
1994
13
Central vision impairment from optic disk drusen in the young. (2079912)
1990
14
Optic disk drusen and pseudotumor cerebri. (2456017)
1988
15
Case report. Optic disk drusen. (7076930)
1982
16
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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Cellular components related to Optic Disk Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163248.9ABCC6, CRB1, KCNMA1, MFRP, NOTCH1

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