MCID: SPN033
MIFTS: 33

Spontaneous Ocular Nystagmus

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Spontaneous Ocular Nystagmus

MalaCards integrated aliases for Spontaneous Ocular Nystagmus:

Name: Spontaneous Ocular Nystagmus 12 15 73
Visual Deprivation Nystagmus 12
Searching Eye Movements 12
Nystagmus, Pathologic 44
Ocular Nystagmus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11771
ICD10 33 H55.03
ICD9CM 35 379.53
MeSH 44 D009759
SNOMED-CT 68 39771000 45339001
UMLS 73 C0271384

Summaries for Spontaneous Ocular Nystagmus

MalaCards based summary : Spontaneous Ocular Nystagmus, also known as visual deprivation nystagmus, is related to pathologic nystagmus and long qt syndrome, and has symptoms including deficiencies of smooth pursuit movements An important gene associated with Spontaneous Ocular Nystagmus is FRMD7 (FERM Domain Containing 7), and among its related pathways/superpathways are Metabolism and DAG and IP3 signaling. Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Spontaneous Ocular Nystagmus

Diseases related to Spontaneous Ocular Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 10.0
2 long qt syndrome 9.9 CALM1 CALM2 CALM3
3 long qt syndrome 1 9.9 CALM1 CALM2 CALM3
4 long qt syndrome 15 9.9 CALM1 CALM2 CALM3
5 vestibular nystagmus 9.9 FUT2 MED12
6 otomycosis 9.9 CALM1 CALM2 CALM3
7 external ear disease 9.9 CALM1 CALM2 CALM3
8 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 CALM1 CALM2 CALM3
9 sporotrichosis 9.9 CALM1 CALM2 CALM3
10 otitis externa 9.9 CALM1 CALM2 CALM3
11 deafness, autosomal recessive 44 9.9 CALM1 CALM2 CALM3
12 acute dacryocystitis 9.9 CALM1 CALM2 CALM3
13 dystonia 24 9.9 CALM1 CALM2 CALM3
14 gestational choriocarcinoma 9.9 CALM1 CALM2 CALM3
15 triosephosphate isomerase deficiency 9.9 CALM1 CALM2 CALM3
16 leber congenital amaurosis 2 9.9 CALM1 CALM2 CALM3
17 tinea unguium 9.9 CALM1 CALM2 CALM3
18 primary systemic mycosis 9.9 CALM1 CALM2 CALM3
19 clear cell acanthoma 9.9 CALM1 CALM2 CALM3
20 cardiomyopathy, dilated, 1a 9.9 CALM1 CALM2 CALM3
21 cardiomyopathy, dilated, 1p 9.9 CALM1 CALM2 CALM3
22 phaeohyphomycosis 9.8 CALM1 CALM2 CALM3
23 deafness, autosomal dominant 2a 9.8 CALM1 CALM2 CALM3
24 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.8 CALM1 CALM2 CALM3
25 ceroid lipofuscinosis, neuronal, 11 9.8 CALM1 CALM2 CALM3
26 papillon-lefevre syndrome 9.8
27 lateral medullary syndrome 9.8
28 primary cutaneous amyloidosis 9.8 CALM1 CALM2 CALM3
29 catecholaminergic polymorphic ventricular tachycardia 9.8 CALM1 CALM2 CALM3
30 cardiac arrest 9.7 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Spontaneous Ocular Nystagmus:



Diseases related to Spontaneous Ocular Nystagmus

Symptoms & Phenotypes for Spontaneous Ocular Nystagmus

UMLS symptoms related to Spontaneous Ocular Nystagmus:


deficiencies of smooth pursuit movements

GenomeRNAi Phenotypes related to Spontaneous Ocular Nystagmus according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.5 CALB1 CALM2 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.5 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 POMC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 CALM2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 CALB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 CALB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.5 POMC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 POMC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 CALB1 CALM2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.5 POMC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.5 POMC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 CALB1

Drugs & Therapeutics for Spontaneous Ocular Nystagmus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Feasibility of Using Epicall for Monitoring Pre-seizure Biomarkers Unknown status NCT01436695

Search NIH Clinical Center for Spontaneous Ocular Nystagmus

Cochrane evidence based reviews: nystagmus, pathologic

Genetic Tests for Spontaneous Ocular Nystagmus

Anatomical Context for Spontaneous Ocular Nystagmus

MalaCards organs/tissues related to Spontaneous Ocular Nystagmus:

41
Eye

Publications for Spontaneous Ocular Nystagmus

Articles related to Spontaneous Ocular Nystagmus:

# Title Authors Year
1
Ginkgolide B accelerates vestibular compensation of spontaneous ocular nystagmus in guinea pig following unilateral labyrinthectomy. ( 7895826 )
1995
2
Injections of calmidazolium chloride into the ipsilateral medial vestibular nucleus or fourth ventricle reduce spontaneous ocular nystagmus following unilateral labyrinthectomy in guinea pigs. ( 8491266 )
1993

Variations for Spontaneous Ocular Nystagmus

Expression for Spontaneous Ocular Nystagmus

Search GEO for disease gene expression data for Spontaneous Ocular Nystagmus.

Pathways for Spontaneous Ocular Nystagmus

Pathways related to Spontaneous Ocular Nystagmus according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 CALM1 CALM2 CALM3 CSPG5 FUT2 MED12
2
Show member pathways
12.97 CALM1 CALM2 CALM3 POMC
3
Show member pathways
12.91 CALM1 CALM2 CALM3 POMC
4
Show member pathways
12.76 CALM1 CALM2 CALM3 CSPG5
5
Show member pathways
12.66 CALM1 CALM2 CALM3 POMC
6
Show member pathways
12.46 CALM1 CALM2 CALM3
7
Show member pathways
12.43 CALM1 CALM2 CALM3
8
Show member pathways
12.43 CALM1 CALM2 CALM3
9
Show member pathways
12.42 CALM1 CALM2 CALM3 POMC
10
Show member pathways
12.41 CALM1 CALM2 CALM3
11
Show member pathways
12.39 CALM1 CALM2 CALM3
12
Show member pathways
12.34 CALM1 CALM2 CALM3
13
Show member pathways
12.34 CALM1 CALM2 CALM3
14
Show member pathways
12.32 CALM1 CALM2 CALM3
15
Show member pathways
12.32 CALM1 CALM2 CALM3
16
Show member pathways
12.31 CALM1 CALM2 CALM3
17
Show member pathways
12.3 CALM1 CALM2 CALM3
18
Show member pathways
12.29 CALM1 CALM2 CALM3
19 12.27 CALM1 CALM2 CALM3
20
Show member pathways
12.27 CALM1 CALM2 CALM3 POMC
21
Show member pathways
12.26 CALM1 CALM2 CALM3
22
Show member pathways
12.25 CALM1 CALM2 CALM3
23
Show member pathways
12.24 CALM1 CALM2 CALM3
24
Show member pathways
12.23 CALM1 CALM2 CALM3
25
Show member pathways
12.23 CALM1 CALM2 CALM3
26
Show member pathways
12.22 CALM1 CALM2 CALM3
27
Show member pathways
12.2 CALM1 CALM2 CALM3
28
Show member pathways
12.17 CALM1 CALM2 CALM3
29
Show member pathways
12.16 CALM1 CALM2 CALM3
30
Show member pathways
12.15 CALM1 CALM2 CALM3
31 12.14 CALM1 CALM2 CALM3
32
Show member pathways
12.12 CALM1 CALM2 CALM3
33
Show member pathways
12.11 CALM1 CALM2 CALM3
34
Show member pathways
12.09 CALM1 CALM2 CALM3
35
Show member pathways
12.09 CALM1 CALM2 CALM3
36
Show member pathways
12.07 CALM1 CALM2 CALM3
37 12.07 CALM1 CALM2 CALM3
38
Show member pathways
12.06 CALM1 CALM2 CALM3
39
Show member pathways
12.03 CALM1 CALM2 CALM3
40 12 CALM1 CALM2 CALM3
41 11.99 CALM1 CALM2 CALM3
42
Show member pathways
11.93 CALM1 CALM2 CALM3
43
Show member pathways
11.91 CALM1 CALM2 CALM3
44
Show member pathways
11.88 CALM1 CALM2 CALM3
45
Show member pathways
11.85 CALM1 CALM2 CALM3
46 11.84 CALM1 CALM2 CALM3
47 11.83 CALM1 CALM2 CALM3
48 11.81 CALM1 CALM2 CALM3
49
Show member pathways
11.8 CALM1 CALM2 CALM3
50
Show member pathways
11.77 CALM1 CALM2 CALM3

GO Terms for Spontaneous Ocular Nystagmus

Cellular components related to Spontaneous Ocular Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.65 CALM1 CALM2 CALM3
2 vesicle GO:0031982 9.63 CALM1 CALM2 CALM3
3 neuron projection GO:0043005 9.62 CALB1 CALM1 CALM3 FRMD7
4 myelin sheath GO:0043209 9.61 CALM1 CALM2 CALM3
5 growth cone GO:0030426 9.58 CALM1 CALM3 FRMD7
6 spindle pole GO:0000922 9.54 CALM1 CALM2 CALM3
7 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
8 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
9 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
10 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Spontaneous Ocular Nystagmus according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.79 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
3 regulation of synaptic vesicle exocytosis GO:2000300 9.77 CALM1 CALM3 CSPG5
4 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
5 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
6 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
7 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
8 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
9 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
10 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM1 CALM2 CALM3
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 CALM1 CALM2 CALM3
12 response to amphetamine GO:0001975 9.65 CALM1 CALM3
13 activation of adenylate cyclase activity GO:0007190 9.65 CALM1 CALM3
14 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 CALM1 CALM2 CALM3
15 positive regulation of DNA binding GO:0043388 9.64 CALM2 CALM3
16 positive regulation of nitric-oxide synthase activity GO:0051000 9.64 CALM1 CALM3
17 response to corticosterone GO:0051412 9.63 CALM1 CALM3
18 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 CALM1 CALM3
19 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
20 regulation of synaptic vesicle endocytosis GO:1900242 9.62 CALM1 CALM3
21 establishment of protein localization to membrane GO:0090150 9.62 CALM1 CALM3
22 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
23 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
25 establishment of protein localization to mitochondrial membrane GO:0090151 9.56 CALM1 CALM3
26 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
29 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
30 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
31 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.8 CALM1 CALM2 CALM3

Molecular functions related to Spontaneous Ocular Nystagmus according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.86 CALB1 CALM1 CALM2 CALM3
2 protein domain specific binding GO:0019904 9.76 CALM1 CALM2 CALM3 MED12
3 ion channel binding GO:0044325 9.69 CALM1 CALM2 CALM3
4 disordered domain specific binding GO:0097718 9.61 CALM1 CALM2 CALM3
5 enzyme regulator activity GO:0030234 9.55 CALM1 CALM3
6 phosphatidylinositol 3-kinase binding GO:0043548 9.54 CALM1 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
8 nitric-oxide synthase binding GO:0050998 9.52 CALM1 CALM3
9 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
10 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
11 nitric-oxide synthase regulator activity GO:0030235 9.48 CALM1 CALM3
12 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
13 type 3 metabotropic glutamate receptor binding GO:0031800 9.4 CALM1 CALM3
14 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
15 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
16 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Spontaneous Ocular Nystagmus

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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