MCID: OPT001
MIFTS: 29

Optic Disk Drusen

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Optic Disk Drusen

MalaCards integrated aliases for Optic Disk Drusen:

Name: Optic Disk Drusen 12 41 14 69
Optic Disc Drusen 72 28
Optic Nerve Head Drusen 12
Drusen of Optic Disc 12
Drusen Optic Disc 51

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD10 32 H47.32
ICD9CM 34 377.21
MeSH 41 D015594
SNOMED-CT 64 33629003
UMLS 69 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary : Optic Disk Drusen, also known as optic disc drusen, is related to optic nerve disease and macular retinal edema. An important gene associated with Optic Disk Drusen is MFRP (Membrane Frizzled-Related Protein), and among its related pathways/superpathways is Notch Signaling Pathway (sino).

Wikipedia : 72 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

Related Diseases for Optic Disk Drusen

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 optic nerve disease 31.6 ELN MFRP UBL4A
2 macular retinal edema 30.3 CRB1 KCNMA1 MFRP
3 microphthalmia, isolated 5 11.9
4 pseudopapilledema 11.5
5 angioid streaks 10.3 ABCC6 GALNT3
6 elastosis perforans serpiginosa 10.3 ABCC6 ELN
7 arterial calcification of infancy 10.3 ABCC6 GALNT3
8 nerve compression syndrome 10.3 GALNT3 NOTCH1
9 papilledema 10.3
10 macular dystrophy, dominant cystoid 10.2 CRB1 KCNMA1 MFRP
11 chorioretinal scar 10.2 ABCC6 NOTCH1
12 aortic valve insufficiency 10.2 ELN NOTCH1
13 senile ectropion 10.2 ELN KANTR
14 subclavian steal syndrome 10.2 KANTR NOTCH1
15 substernal goiter 10.2 KANTR NOTCH1
16 functional colonic disease 10.2 KANTR KCNMA1
17 petroclival meningioma 10.1 KANTR NOTCH1
18 fundus dystrophy 10.1 CRB1 ELN MFRP
19 macular degeneration, age-related, 1 10.1 CRB1 KCNMA1 MFRP
20 brachial plexus neuritis 10.1 KANTR NOTCH1
21 cataract 10.1
22 choroiditis 10.1
23 retinitis 10.1
24 sciatic neuropathy 10.1 KANTR NOTCH1
25 colonic pseudo-obstruction 10.1 KANTR KCNMA1
26 dystonia 1, torsion, autosomal dominant 10.0 KANTR NOTCH1
27 calcific tendinitis 10.0 GALNT3 KANTR
28 carotid artery dissection 10.0 KANTR NOTCH1
29 aortic valve disease 1 10.0 ELN NOTCH1
30 cutis laxa 10.0 ABCC6 ELN
31 adams-oliver syndrome 1 10.0
32 blood group--diego system 10.0
33 melanoma, uveal 10.0
34 intracranial hypertension, idiopathic 10.0
35 oliver syndrome 10.0
36 nonarteritic anterior ischemic optic neuropathy 10.0
37 retinitis pigmentosa 10.0
38 leber congenital amaurosis 4 10.0
39 hydrops, lactic acidosis, and sideroblastic anemia 10.0
40 ischemic optic neuropathy 10.0
41 adams-oliver syndrome 10.0
42 central retinal artery occlusion 10.0
43 poems syndrome 10.0
44 melanoma 10.0
45 retinal artery occlusion 10.0
46 neuropathy 10.0
47 juvenile glaucoma 9.9 ELN UBL4A
48 cranial nerve disease 9.8 KANTR MFRP UBL4A
49 aortic disease 9.8 ELN NOTCH1

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



Diseases related to Optic Disk Drusen

Symptoms & Phenotypes for Optic Disk Drusen

Drugs & Therapeutics for Optic Disk Drusen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY) Completed NCT02793206
2 Video Diversion During Fundoscopic Exam in Children Completed NCT01673815

Search NIH Clinical Center for Optic Disk Drusen

Cochrane evidence based reviews: optic disk drusen

Genetic Tests for Optic Disk Drusen

Genetic tests related to Optic Disk Drusen:

# Genetic test Affiliating Genes
1 Optic Disc Drusen 28

Anatomical Context for Optic Disk Drusen

Publications for Optic Disk Drusen

Articles related to Optic Disk Drusen:

(show all 20)
# Title Authors Year
1
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. ( 28659124 )
2017
2
Optic disk drusen in children. ( 27033945 )
2016
3
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 26296786 )
2015
4
PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE. ( 26444522 )
2015
5
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 25266841 )
2014
6
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
7
Visual field defects due to optic disk drusen in children. ( 23733034 )
2013
8
Nonarteritic anterior ischemic optic neuropathy in a child with optic disk drusen. ( 22525184 )
2012
9
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
10
Acquired myelinated nerve fibers in association with optic disk drusen. ( 21094066 )
2010
11
An atypical case of optic disk drusen with nerve fiber layer thickening. ( 28539765 )
2010
12
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. ( 18554571 )
2008
13
Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. ( 11812439 )
2002
14
Optic disk drusen. ( 12504737 )
2002
15
Sonography in optic disk drusen. ( 7863921 )
1995
16
Sonography in optic disk drusen: imaging findings and role in diagnosis when funduscopic findings are normal. ( 8273656 )
1994
17
Central vision impairment from optic disk drusen in the young. ( 2079912 )
1990
18
Optic disk drusen and pseudotumor cerebri. ( 2456017 )
1988
19
Case report. Optic disk drusen. ( 7076930 )
1982
20
Optic disk drusen with central retinal artery occlusion. ( 7109330 )
1982

Variations for Optic Disk Drusen

Expression for Optic Disk Drusen

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

Pathways for Optic Disk Drusen

Pathways related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.15 CRB1 NOTCH1

GO Terms for Optic Disk Drusen

Cellular components related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.02 ABCC6 CRB1 KCNMA1 MFRP NOTCH1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.16 NOTCH1 SPRED1
2 eye photoreceptor cell development GO:0042462 8.96 CRB1 MFRP
3 vasculogenesis involved in coronary vascular morphogenesis GO:0060979 8.62 NOTCH1 SPRED1

Sources for Optic Disk Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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