MCID: OPT001
MIFTS: 28

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 38 13 67
Drusen of Optic Disc 11 26
 
Optic Nerve Head Drusen 11
Drusen Optic Disc 49

Classifications:



External Ids:

Disease Ontology11 DOID:13561
ICD1029 H47.32
SNOMED-CT61 33629003
ICD9CM31 377.21
MeSH38 D015594

Summaries for Optic Disk Drusen

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Wikipedia:70 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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, isolated 511.7
2pseudopapilledema11.4
3optic nerve disease11.1
4pediatric extraocular retinoblastoma10.5CRB1, RS1
5acute allergic mucoid otitis media10.5KCNMA1, RS1
6leukodystrophy, hypomyelinating, 510.5KCNMA1, MFRP
7gasserian ganglion meningioma10.5KCNMA1, RS1
8cerebral sarcoidosis10.5ABCC6, GALNT3
9dupuytren contracture dupuytren contracture 1, included10.4ABCC6, ELN
10regular astigmatism10.4KCNMA1, RS1
11chronic salpingitis10.3GALNT3, NOTCH1
12atelosteogenesis10.3ABCC6, GALNT3
13trench fever10.3ABCC6, NOTCH1
14ovarian embryonal carcinoma10.3ABCC6, CRB1, RS1
15intra-abdominal lymph node mast cell malignancy10.2KANTR, NOTCH1
16breast liposarcoma10.2ELN, NOTCH1
17reading disorder10.2ELN, KANTR
18renal infectious disease10.2KANTR, NOTCH1
19lynch syndrome10.2KANTR, KCNMA1
20abnormal threshold of rods10.2KANTR, NOTCH1
21lesion of sciatic nerve10.2KANTR, NOTCH1
22brachial plexus neuropathy10.2KANTR, NOTCH1
23papilledema10.2
24perinatal jaundice due to hepatocellular damage10.2KANTR, NOTCH1
25impetigo herpetiformis10.1CRB1, ELN
26olfactory neuroblastoma10.1KANTR, NOTCH1
27polyneuropathy due to drug10.1GALNT3, KANTR
28macular degeneration, age-related, 110.1CRB1, KCNMA1, MFRP, RS1
29intestinal pseudo-obstruction10.1KANTR, KCNMA1
30choroiditis10.0
31retinitis10.0
32intrinsic asthma10.0KANTR, NOTCH1
33central nervous system germ cell tumor9.9KANTR, NOTCH1
34nonarteritic anterior ischemic optic neuropathy9.9
35oliver syndrome9.9
36cataract9.9
37ischemic optic neuropathy9.9
38retinitis pigmentosa9.9
39adams-oliver syndrome9.9
40central retinal artery occlusion9.9
41poems syndrome9.9
42uveal melanoma9.9
43retinal artery occlusion9.9
44neuropathy9.9
45malignant hypertension9.9
46angioid streaks9.9
47calcinosis9.9
48chorioretinitis9.9
49intracranial hypertension9.9
50familial tumoral calcinosis9.9

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
1Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human EyeUnknown statusNCT01348672
2Retinal Neurodegenerative Signs in Alzheimer's DiseasesUnknown statusNCT01555827
3Video Diversion During Fundoscopic Exam in ChildrenCompletedNCT01673815
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 Drusen26

Anatomical Context for Optic Disk Drusen

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MalaCards organs/tissues related to Optic Disk Drusen:

35
Eye

Animal Models for Optic Disk Drusen or affiliated genes

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MGI Mouse Phenotypes related to Optic Disk Drusen:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3CRB1, 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:00163248.9ABCC6, 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:004246210.3CRB1, MFRP
2visual perceptionGO:00076019.6ABCC6, MFRP, RS1

Sources for Optic Disk Drusen

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet