MCID: OPT001
MIFTS: 31

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 44 15 73
Optic Disc Drusen 76 29 6
Optic Nerve Head Drusen 12
Drusen of Optic Disc 12
Drusen Optic Disc 55

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD10 33 H47.32
ICD9CM 35 377.21
MeSH 44 D015594
SNOMED-CT 68 33629003
UMLS 73 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary : Optic Disk Drusen, also known as optic disc drusen, is related to macular dystrophy, dominant cystoid and macular retinal edema. An important gene associated with Optic Disk Drusen is RHO (Rhodopsin), and among its related pathways/superpathways is Notch Signaling Pathway (sino). The drugs Coal tar and Anesthetics have been mentioned in the context of this disorder. Related phenotype is pigmentation.

Wikipedia : 76 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 macular dystrophy, dominant cystoid 30.6 CRB1 KCNMA1 MFRP
2 macular retinal edema 30.6 CRB1 KCNMA1 MFRP
3 optic nerve disease 29.1 CCNDBP1 ELN MFRP UBL4A
4 microphthalmia, isolated 5 11.8
5 pseudopapilledema 11.5
6 angioid streaks 10.5 ABCC6 GALNT3
7 elastosis perforans serpiginosa 10.5 ABCC6 ELN
8 coats disease 10.5 CRB1 RHO
9 arterial calcification of infancy 10.5 ABCC6 GALNT3
10 nerve compression syndrome 10.4 GALNT3 NOTCH1
11 retinal degeneration 10.4 CRB1 MFRP RHO
12 retinal disease 10.3 ABCC6 CRB1 RHO
13 aortic valve insufficiency 10.3 ELN NOTCH1
14 senile ectropion 10.3 ELN KANTR
15 subclavian steal syndrome 10.3 KANTR NOTCH1
16 substernal goiter 10.2 KANTR NOTCH1
17 functional colonic disease 10.2 KANTR KCNMA1
18 petroclival meningioma 10.2 KANTR NOTCH1
19 chorioretinal scar 10.2 ABCC6 NOTCH1 RHO
20 brachial plexus neuritis 10.2 KANTR NOTCH1
21 sciatic neuropathy 10.2 KANTR NOTCH1
22 nervous system disease 10.1 KANTR MFRP RHO
23 cataract 10.1
24 choroiditis 10.1
25 retinitis 10.1
26 calcific tendinitis 10.1 GALNT3 KANTR
27 colonic pseudo-obstruction 10.1 KANTR KCNMA1
28 macular degeneration, age-related, 1 10.1 CRB1 KCNMA1 MFRP RHO
29 dystonia 1, torsion, autosomal dominant 10.1 KANTR NOTCH1
30 fundus dystrophy 10.0 CRB1 ELN MFRP RHO
31 adams-oliver syndrome 1 10.0
32 melanoma, uveal 10.0
33 intracranial hypertension, idiopathic 10.0
34 oliver syndrome 10.0
35 nonarteritic anterior ischemic optic neuropathy 10.0
36 retinitis pigmentosa 10.0
37 leber congenital amaurosis 4 10.0
38 ischemic optic neuropathy 10.0
39 adams-oliver syndrome 10.0
40 central retinal artery occlusion 10.0
41 poems syndrome 10.0
42 melanoma 10.0
43 retinal artery occlusion 10.0
44 neuropathy 10.0
45 carotid artery dissection 9.9 KANTR NOTCH1
46 juvenile glaucoma 9.8 ELN UBL4A
47 cranial nerve disease 9.7 KANTR MFRP UBL4A
48 aortic valve disease 1 9.7 ELN NOTCH1
49 trehalase deficiency 9.2 CRB1 ELN NOTCH1 SPRED1

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



Diseases related to Optic Disk Drusen

Symptoms & Phenotypes for Optic Disk Drusen

MGI Mouse Phenotypes related to Optic Disk Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 CRB1 MFRP NOTCH1 RHO

Drugs & Therapeutics for Optic Disk Drusen

Drugs for Optic Disk Drusen (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 1, Phase 2 8007-45-2
2 Anesthetics Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
2 Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY) Completed NCT02793206
3 Video Diversion During Fundoscopic Exam in Children Completed NCT01673815 Not Applicable

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 29

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
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
6
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 25266841 )
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
An atypical case of optic disk drusen with nerve fiber layer thickening. ( 28539765 )
2010
11
Acquired myelinated nerve fibers in association with optic disk drusen. ( 21094066 )
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
Optic disk drusen with central retinal artery occlusion. ( 7109330 )
1982
20
Case report. Optic disk drusen. ( 7076930 )
1982

Variations for Optic Disk Drusen

ClinVar genetic disease variations for Optic Disk Drusen:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 55870851: 55870851
2 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 56097986: 56097986
3 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
4 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh38 Chromosome 3, 129532727: 129532727

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 10.17 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
2 photoreceptor inner segment GO:0001917 8.96 CRB1 RHO

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 ABCC6 MFRP RHO
2 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.26 NOTCH1 SPRED1
3 eye photoreceptor cell development GO:0042462 8.96 CRB1 MFRP
4 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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