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 11 13 37 66
Drusen of Optic Disc 11 25
 
Optic Nerve Head Drusen 11
Drusen Optic Disc 48

Classifications:



External Ids:

Disease Ontology11 DOID:13561
ICD1028 H47.32
SNOMED-CT60 33629003
ICD9CM30 377.21
MeSH37 D015594

Summaries for Optic Disk Drusen

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Wikipedia:69 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 drusen of optic disc, 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, and related mouse phenotype pigmentation.

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, isolated 511.6
2pseudopapilledema10.7
3pediatric extraocular retinoblastoma10.6CRB1, RS1
4acute allergic mucoid otitis media10.6KCNMA1, RS1
5leukodystrophy, hypomyelinating, 510.5KCNMA1, MFRP
6gasserian ganglion meningioma10.5KCNMA1, RS1
7cerebral sarcoidosis10.5ABCC6, GALNT3
8chronic salpingitis10.4GALNT3, NOTCH1
9regular astigmatism10.3KCNMA1, RS1
10papilledema10.3
11intra-abdominal lymph node mast cell malignancy10.3KANTR, NOTCH1
12trench fever10.3ABCC6, NOTCH1
13atelosteogenesis10.3ABCC6, GALNT3
14background diabetic retinopathy10.3KANTR, NOTCH1
15renal infectious disease10.3KANTR, NOTCH1
16ovarian embryonal carcinoma10.2ABCC6, CRB1, RS1
17abnormal threshold of rods10.2KANTR, NOTCH1
18lesion of sciatic nerve10.2KANTR, NOTCH1
19brachial plexus neuropathy10.2KANTR, NOTCH1
20lynch syndrome10.2KANTR, KCNMA1
21perinatal jaundice due to hepatocellular damage10.2KANTR, NOTCH1
22choroiditis10.2
23retinitis10.2
24olfactory neuroblastoma10.1KANTR, NOTCH1
25macular degeneration, age-related, 110.1CRB1, KCNMA1, MFRP, RS1
26nonarteritic anterior ischemic optic neuropathy10.0
27oliver syndrome10.0
28cataract10.0
29ischemic optic neuropathy10.0
30retinitis pigmentosa10.0
31adams-oliver syndrome10.0
32central retinal artery occlusion10.0
33poems syndrome10.0
34melanoma10.0
35uveal melanoma10.0
36retinal artery occlusion10.0
37neuropathy10.0
38polyneuropathy due to drug10.0GALNT3, KANTR
39malignant hypertension10.0
40angioid streaks10.0
41calcinosis10.0
42chorioretinitis10.0
43intracranial hypertension10.0
44familial tumoral calcinosis10.0
45central nervous system germ cell tumor9.9KANTR, NOTCH1
46color agnosia9.8CA3, KANTR
47intrinsic asthma9.8KANTR, NOTCH1
48ametropic amblyopia9.8KANTR, UBL4A
49intestinal pseudo-obstruction9.7KANTR, KCNMA1
50tibial collateral ligament bursitis5.8ABCC6, CA3, CCNDBP1, CRB1, GALNT3, INSC

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
4Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY)Active, not recruitingNCT02793206

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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Genetic tests related to Optic Disk Drusen:

id Genetic test Affiliating Genes
1 Optic Disc Drusen25

Anatomical Context for Optic Disk Drusen

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MalaCards organs/tissues related to Optic Disk Drusen:

34
Eye

Animal Models for Optic Disk Drusen or affiliated genes

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MGI Mouse Phenotypes related to Optic Disk Drusen:

39
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
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. (26296786)
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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Cellular components related to Optic Disk Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163248.8ABCC6, CRB1, KCNMA1, MFRP, NOTCH1

Biological processes related to Optic Disk Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1eye photoreceptor cell developmentGO:004246210.2CRB1, MFRP
2visual perceptionGO:00076019.6ABCC6, MFRP, RS1

Sources for Optic Disk Drusen

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet