MCID: OPT001
MIFTS: 28

Optic Disk Drusen malady

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Optic Disk Drusen

Aliases & Descriptions for Optic Disk Drusen:

Name: Optic Disk Drusen 12 42 14 69
Drusen of Optic Disc 12 29
Optic Nerve Head Drusen 12
Drusen Optic Disc 52

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD10 33 H47.32
ICD9CM 35 377.21
MeSH 42 D015594
SNOMED-CT 64 33629003
UMLS 69 C0029128

Summaries for Optic Disk Drusen

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/superpathways is Notch Signaling Pathway (sino). Related phenotype is pigmentation.

Wikipedia : 71 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 50)
id Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 5 11.7
2 pseudopapilledema 11.4
3 optic nerve disease 11.1
4 cole disease 10.2 ABCC6 GALNT3
5 uveoparotid fever 10.2 ABCC6 GALNT3
6 arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly 10.2 ABCC6 ELN
7 breast osteosarcoma 10.2 CRB1 RS1
8 perianal hematoma 10.2 KCNMA1 RS1
9 biemond syndrome ii 10.2 CRB1 RS1
10 papilledema 10.2
11 pancreatic vasoactive intestinal peptide producing tumor 10.2 GALNT3 NOTCH1
12 shipyard eye 10.1 KANTR NOTCH1
13 pancreatic non-functioning delta cell tumor 10.1 KANTR NOTCH1
14 median neuropathy 10.1 ELN NOTCH1
15 athabaskan brainstem dysgenesis syndrome 10.1 KCNMA1 MFRP RS1
16 right bundle branch block 10.1 KANTR NOTCH1
17 multilocular clear cell renal cell carcinoma 10.1 KCNMA1 MFRP RS1
18 tinea profunda 10.1 ELN KANTR
19 bartonellosis 10.1 ABCC6 NOTCH1
20 anal canal adenocarcinoma 10.1 KANTR NOTCH1
21 lethal congenital contracture syndrome 1 10.1 KANTR NOTCH1
22 adult liposarcoma 10.1 ABCC6 CRB1 RS1
23 brain compression 10.1 KANTR NOTCH1
24 adult infiltrating astrocytic neoplasm 10.1 KCNMA1 RS1
25 hidrocystoma 10.0 KANTR KCNMA1
26 choroiditis 10.0
27 retinitis 10.0
28 allergic contact dermatitis of eyelid 10.0 ELN MFRP UBL4A
29 puerperal pulmonary embolism 10.0 CRB1 ELN MFRP RS1
30 hypertrophy of breast 10.0 ELN UBL4A
31 iridocyclitis 9.9 KANTR NOTCH1
32 oliver syndrome 9.9
33 uveal melanoma 9.9
34 cataract 9.9
35 retinal artery occlusion 9.9
36 ischemic optic neuropathy 9.9
37 neuropathy 9.9
38 retinitis pigmentosa 9.9
39 adams-oliver syndrome 9.9
40 central retinal artery occlusion 9.9
41 poems syndrome 9.9
42 melanoma 9.9
43 nonarteritic anterior ischemic optic neuropathy 9.9
44 chorioretinitis 9.9
45 intracranial hypertension 9.9
46 malignant hypertension 9.9
47 familial tumoral calcinosis 9.9
48 angioid streaks 9.9
49 calcinosis 9.9
50 maxillary sinus cancer 8.3 ABCC6 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

MGI Mouse Phenotypes related to Optic Disk Drusen:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 NOTCH1 RS1 CRB1 MFRP

Drugs & Therapeutics for Optic Disk Drusen

Interventional clinical trials:


id Name Status NCT ID Phase
1 Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human Eye Unknown status NCT01348672
2 Retinal Neurodegenerative Signs in Alzheimer's Diseases Unknown status NCT01555827
3 Video Diversion During Fundoscopic Exam in Children Completed NCT01673815
4 Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY) Active, not recruiting NCT02793206

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:

id 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 18)
id Title Authors Year
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

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.13 ABCC6 MFRP RS1
2 eye photoreceptor cell development GO:0042462 8.62 CRB1 MFRP

Sources for Optic Disk Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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