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 39 13 68
Drusen of Optic Disc 11 27
 
Optic Nerve Head Drusen 11
Drusen Optic Disc 50

Classifications:



External Ids:

Disease Ontology11 DOID:13561
ICD1030 H47.32
SNOMED-CT62 33629003
ICD9CM32 377.21
MeSH39 D015594

Summaries for Optic Disk Drusen

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Wikipedia:71 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), and among its related pathways is Notch Signaling Pathway (sino). 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 511.7
2pseudopapilledema11.4
3optic nerve disease11.1
4cole disease10.2ABCC6, GALNT3
5uveoparotid fever10.2ABCC6, GALNT3
6arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly10.2ABCC6, ELN
7breast osteosarcoma10.2CRB1, RS1
8perianal hematoma10.2KCNMA1, RS1
9biemond syndrome ii10.2CRB1, RS1
10papilledema10.2
11pancreatic vasoactive intestinal peptide producing tumor10.2GALNT3, NOTCH1
12shipyard eye10.1KANTR, NOTCH1
13pancreatic non-functioning delta cell tumor10.1KANTR, NOTCH1
14median neuropathy10.1ELN, NOTCH1
15athabaskan brainstem dysgenesis syndrome10.1KCNMA1, MFRP, RS1
16right bundle branch block10.1KANTR, NOTCH1
17multilocular clear cell renal cell carcinoma10.1KCNMA1, MFRP, RS1
18tinea profunda10.1ELN, KANTR
19bartonellosis10.1ABCC6, NOTCH1
20anal canal adenocarcinoma10.1KANTR, NOTCH1
21lethal congenital contracture syndrome 110.1KANTR, NOTCH1
22adult liposarcoma10.1ABCC6, CRB1, RS1
23brain compression10.1KANTR, NOTCH1
24adult infiltrating astrocytic neoplasm10.1KCNMA1, RS1
25hidrocystoma10.0KANTR, KCNMA1
26choroiditis10.0
27retinitis10.0
28allergic contact dermatitis of eyelid10.0ELN, MFRP, UBL4A
29puerperal pulmonary embolism10.0CRB1, ELN, MFRP, RS1
30hypertrophy of breast10.0ELN, UBL4A
31iridocyclitis9.9KANTR, NOTCH1
32nonarteritic anterior ischemic optic neuropathy9.9
33oliver syndrome9.9
34cataract9.9
35ischemic optic neuropathy9.9
36retinitis pigmentosa9.9
37adams-oliver syndrome9.9
38central retinal artery occlusion9.9
39poems syndrome9.9
40melanoma9.9
41uveal melanoma9.9
42retinal artery occlusion9.9
43neuropathy9.9
44malignant hypertension9.9
45angioid streaks9.9
46calcinosis9.9
47chorioretinitis9.9
48intracranial hypertension9.9
49familial tumoral calcinosis9.9
50maxillary sinus cancer8.3ABCC6, CA3, CCNDBP1, CRB1, ELN, GALNT3

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



Diseases related to optic disk drusen

Symptoms & Phenotypes for Optic Disk Drusen

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MGI Mouse Phenotypes related to Optic Disk Drusen according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CRB1, MFRP, NOTCH1, RS1

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 Drusen27

Anatomical Context for Optic Disk Drusen

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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, peripapillary choroidal neovascularization, and POEMS syndrome. (11812439)
2002
12
Optic disk drusen. (12504737)
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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Pathways related to Optic Disk Drusen according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8CRB1, NOTCH1

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:00163249.0ABCC6, 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:004246210.6CRB1, MFRP
2visual perceptionGO:00076019.5ABCC6, MFRP, RS1

Sources for Optic Disk Drusen

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet