MCID: OPS006
MIFTS: 49

Opsoclonus-Myoclonus Syndrome

Categories: Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Opsoclonus-Myoclonus Syndrome

MalaCards integrated aliases for Opsoclonus-Myoclonus Syndrome:

Name: Opsoclonus-Myoclonus Syndrome 53 59 55 73
Kinsbourne Syndrome 53 54 59 73
Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome 53 59
Opsoclonus-Myoclonus-Ataxia Syndrome 53 59
Paraneoplastic Opsoclonus-Myoclonus 53 59
Dancing Eye-Dancing Feet Syndrome 53 59
Ataxo-Opso-Myoclonus Syndrome 53 59
Dancing Eye Syndrome 53 59
Poma Syndrome 53 59
Oma Syndrome 53 59
Oms 53 59
Dancing Eyes-Dancing Feet Syndrome 54
Opsoclonus Myoclonus Syndrome 53
Opsoclonus Myoclonus 54

Characteristics:

Orphanet epidemiological data:

59
opsoclonus-myoclonus syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe),<1/1000000 (United Kingdom); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA1183
ICD10 via Orphanet 34 G25.3
MESH via Orphanet 45 D053578
UMLS via Orphanet 74 C0393626 C1096154 C1721017

Summaries for Opsoclonus-Myoclonus Syndrome

NIH Rare Diseases : 53 Opsoclonus-myoclonus syndrome(OMS) is a rare disorder that affects the nervous system. Symptoms include rapid, multi-directional eye movements (opsoclonus), quick, involuntary muscle jerks (myoclonus), uncoordinated movement (ataxia), irritability, and sleep disturbance. The onset of OMS is usually abrupt and often severe. The disease may become chronic. OMS typically occurs in association with tumors (neuroblastomas), or following a viral or bacterial infection. Treatment may include corticosteroids or ACTH (adrenocorticotropic hormone). When there is a tumor present, treatment may include chemotherapy, surgery, and/or radiation. In some cases, when the underlying cause of OMS is treated, symptoms improve.

MalaCards based summary : Opsoclonus-Myoclonus Syndrome, also known as kinsbourne syndrome, is related to myoclonic encephalopathy of infants and myoclonus, and has symptoms including myoclonus and ophthalmoplegia. An important gene associated with Opsoclonus-Myoclonus Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. The drugs rituximab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and brain, and related phenotypes are hematopoietic system and immune system

NINDS : 54 Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone, lethargy, irritability, and malaise (a vague feeling of bodily discomfort) may also be present. Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.

Wikipedia : 76 Opsoclonus Myoclonus Syndrome (OMS), also known as Opsoclonus-Myoclonus-Ataxia (OMA), is a rare... more...

Related Diseases for Opsoclonus-Myoclonus Syndrome

Diseases related to Opsoclonus-Myoclonus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 myoclonic encephalopathy of infants 11.2
2 myoclonus 11.0
3 neuroblastoma 10.4
4 small cell cancer of the lung 10.3
5 lung cancer 10.3
6 pneumonia 10.2
7 scleredema adultorum 10.2 CXCL9 POMC
8 neuronitis 10.2
9 encephalitis 10.2
10 apple allergy 10.2 CXCL10 CXCL11
11 tick-borne encephalitis 10.1 CXCL10 CXCL11
12 myasthenic syndrome, congenital, 7, presynaptic 10.1 CXCL9 CXCR3
13 viral encephalitis 10.1 CXCL10 TNFSF13B
14 sydenham chorea 10.1 CXCL10 CXCL9
15 teratoma 10.1
16 immunodeficiency with hyper-igm, type 2 10.1 CXCL9 TNFSF13B
17 lymphoproliferative syndrome 2 10.0 CXCL10 CXCR3
18 carrion's disease 10.0 CXCL10 CXCL9
19 diabetes mellitus 9.9
20 laryngitis 9.9
21 hepatitis 9.9
22 neurofibrosarcoma 9.9
23 lambert-eaton myasthenic syndrome 9.9
24 ganglioneuroblastoma 9.9
25 acute transverse myelitis 9.9
26 lymphoma 9.9
27 pancreatitis 9.9
28 salmonellosis 9.9
29 dystonia 9.9
30 nasopharyngitis 9.9
31 japanese encephalitis 9.9
32 ovarian germ cell teratoma 9.9
33 locked-in syndrome 9.9
34 prostate cancer 9.9
35 prostatitis 9.9
36 influenza 9.9
37 hepatitis c 9.9
38 west nile encephalitis 9.9
39 anaplastic oligoastrocytoma 9.9
40 cystic teratoma 9.9
41 autoimmune autonomic ganglionopathy 9.9
42 aceruloplasminemia 9.9
43 myelitis 9.9
44 oligoastrocytoma 9.9
45 anxiety 9.9
46 central nervous system lymphoma 9.9
47 primary central nervous system lymphoma 9.9
48 west nile virus 9.9
49 transverse myelitis 9.9
50 ataxia-oculomotor apraxia 3 9.9

Graphical network of the top 20 diseases related to Opsoclonus-Myoclonus Syndrome:



Diseases related to Opsoclonus-Myoclonus Syndrome

Symptoms & Phenotypes for Opsoclonus-Myoclonus Syndrome

UMLS symptoms related to Opsoclonus-Myoclonus Syndrome:


myoclonus, ophthalmoplegia

MGI Mouse Phenotypes related to Opsoclonus-Myoclonus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 TNFSF13 TNFSF13B CXCL10 CXCR3 GPI POMC
2 immune system MP:0005387 9.1 POMC TNFSF13 TNFSF13B CXCL10 CXCR3 GPI

Drugs & Therapeutics for Opsoclonus-Myoclonus Syndrome

Drugs for Opsoclonus-Myoclonus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
2
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
3
Prednisone Approved, Vet_approved Phase 3,Not Applicable 53-03-2 5865
4
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
5 Antirheumatic Agents Phase 3,Phase 2,Phase 1
6 beta-endorphin Phase 3
7 Alkylating Agents Phase 3
8 glucocorticoids Phase 3
9 Rho(D) Immune Globulin Phase 3
10 Adrenocorticotropic Hormone Phase 3
11 gamma-Globulins Phase 3
12 Corticotropin-Releasing Hormone Phase 3
13 Neurotransmitter Agents Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
17 Endorphins Phase 3
18 Antibodies Phase 3
19 Immunoglobulins Phase 3
20 Immunoglobulins, Intravenous Phase 3
21 Immunosuppressive Agents Phase 3,Not Applicable
22 Anti-Inflammatory Agents Phase 3
23 Melanocyte-Stimulating Hormones Phase 3
24 Antineoplastic Agents, Alkylating Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Dexamethasone acetate Phase 3 1177-87-3
27
protease inhibitors Phase 3
28 Gastrointestinal Agents Phase 3
29 HIV Protease Inhibitors Phase 3
30 Peripheral Nervous System Agents Phase 3
31 Antiemetics Phase 3
32 BB 1101 Phase 3
33 Autonomic Agents Phase 3
34
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492
35 Calcineurin Inhibitors Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
2 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
3 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
4 Effectiveness of Rituximab in Pediatric OMS Patients. Completed NCT00244361 Phase 1, Phase 2 rituximab
5 Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome Completed NCT00806182
6 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Not Applicable Tacrolimus

Search NIH Clinical Center for Opsoclonus-Myoclonus Syndrome

Genetic Tests for Opsoclonus-Myoclonus Syndrome

Anatomical Context for Opsoclonus-Myoclonus Syndrome

MalaCards organs/tissues related to Opsoclonus-Myoclonus Syndrome:

41
Eye, Lung, Brain, B Cells, Prostate

Publications for Opsoclonus-Myoclonus Syndrome

Articles related to Opsoclonus-Myoclonus Syndrome:

(show top 50) (show all 107)
# Title Authors Year
1
Acute transverse myelitis following an opsoclonus-myoclonus syndrome: An unusual presentation. ( 29773357 )
2018
2
A case of adult-onset poststreptococcal opsoclonus-myoclonus syndrome. ( 29713906 )
2018
3
Opsoclonus-Myoclonus Syndrome-Reply. ( 29522060 )
2018
4
Exaggerated startle in post-infectious opsoclonus myoclonus syndrome. ( 29729591 )
2018
5
Opsoclonus-Myoclonus Syndrome-Additional Clinical Considerations. ( 29522119 )
2018
6
Multifactorial analysis of opsoclonus-myoclonus syndrome etiology (&amp;quot;Tumor&amp;quot; vs. &amp;quot;No tumor&amp;quot;) in a cohort of 356 US children. ( 29727049 )
2018
7
Genomic Profiles of Neuroblastoma Associated With Opsoclonus Myoclonus Syndrome. ( 29135842 )
2018
8
Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin. ( 28975137 )
2017
9
Teaching Video NeuroImages: Maneuvers to elicit opsoclonus in opsoclonus-myoclonus syndrome. ( 28416624 )
2017
10
Brain volumetric analysis and cortical thickness in adults with saccadic intrusions (ocular flutter or opsoclonus-myoclonus syndrome). ( 29121544 )
2017
11
Opsoclonus-myoclonus syndrome following long-term use of cyclosporine. ( 28905654 )
2017
12
Longitudinal multi-modal neuroimaging in opsoclonus-myoclonus syndrome. ( 28054126 )
2017
13
Postintervention acute opsoclonus myoclonus syndrome. ( 28432174 )
2017
14
Opsoclonus myoclonus syndrome in a patient with Japanese encephalitis: a case report. ( 29058581 )
2017
15
Opsoclonus-Myoclonus Syndrome during Rituximab Treatment for Autoimmune Autonomic Ganglionopathy. ( 28740856 )
2017
16
Dexamethasone, Intravenous Immunoglobulin, and Rituximab Combination Immunotherapy for Pediatric Opsoclonus-Myoclonus Syndrome. ( 28651977 )
2017
17
Demographic, Clinical, and Immunologic Features of 389 Children with Opsoclonus-Myoclonus Syndrome: A Cross-sectional Study. ( 28959231 )
2017
18
Rituximab, IVIg, and Tetracosactide (ACTH1-24) Combination Immunotherapy (&amp;quot;RITE-CI&amp;quot;) for Pediatric Opsoclonus-Myoclonus Syndrome: Immunomarkers and Clinical Observations. ( 29258131 )
2017
19
Childhood opsoclonus-myoclonus syndrome: A case series from Tunisia. ( 28549713 )
2017
20
Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome. ( 28823798 )
2017
21
Opsoclonus-Myoclonus Syndrome: A New Era of Improved Prognosis? ( 28479124 )
2017
22
Transient symptomatic worsening by atropine in opsoclonus-myoclonus syndrome. ( 28102628 )
2017
23
Benign opsoclonus myoclonus syndrome and prostate cancer. ( 28958399 )
2017
24
Primary pancreatic neuroblastoma presenting with opsoclonus-myoclonus syndrome. ( 26973724 )
2016
25
Clinical and Immunological Features of Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies. ( 26856612 )
2016
26
New Findings in Adult Opsoclonus-Myoclonus Syndrome. ( 26856251 )
2016
27
Adult-onset Opsoclonus-Myoclonus Syndrome Associated With Ganglionic Acetylcholine Receptor Autoantibody. ( 27801769 )
2016
28
Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies: A Message for Clinicians. ( 27159217 )
2016
29
Trends and tenets in relapsing and progressive opsoclonus-myoclonus syndrome. ( 26786246 )
2016
30
Adult-onset opsoclonus-myoclonus syndrome due to West Nile Virus treated with intravenous immunoglobulin. ( 27473195 )
2016
31
Genetic features of neuroblastic tumors associated with opsoclonus-myoclonus syndrome opens up the possibility for detection in peripheral blood. ( 26949993 )
2016
32
Opsoclonus-Myoclonus Syndrome, Neuroblastoma, and Insulin-Dependent Diabetes Mellitus in a Child: A Unique Patient. ( 26778146 )
2016
33
Altered functional brain connectivity in children and young people with opsoclonus-myoclonus syndrome. ( 27658927 )
2016
34
Sensory Processing Difficulties in Opsoclonus-Myoclonus Syndrome: A Pilot Project of Presentation and Possible Prevalence. ( 26994071 )
2016
35
Pediatric opsoclonus-myoclonus syndrome: the role of functional brain connectivity studies. ( 27730631 )
2016
36
Opsoclonus-Myoclonus Syndrome in Primary Central Nervous System Lymphoma. ( 27023309 )
2016
37
Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment. ( 27095464 )
2016
38
Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies-Reply. ( 27159281 )
2016
39
Opsoclonus-myoclonus syndrome associated with a nasopharyngeal tumor in an adult: a case report. ( 26033370 )
2015
40
Opsoclonus-myoclonus syndrome in a patient with an anaplastic oligoastrocytoma. ( 25864100 )
2015
41
18F-FDG PET/CT Brain Imaging on a Patient With Paraneoplastic Opsoclonus-Myoclonus Syndrome Arising Out of a Mature Cystic Teratoma. ( 26545025 )
2015
42
Rituximab treatment for relapsed opsoclonus-myoclonus syndrome. ( 26375512 )
2015
43
A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. ( 26278497 )
2015
44
Opsoclonus-myoclonus syndrome associated with non-small cell lung cancer. ( 26038602 )
2015
45
Autoantibody-mediated cytotoxicity in paediatric opsoclonus-myoclonus syndrome is dependent on ERK-1/2 phophorylation. ( 26616889 )
2015
46
Opsoclonus-myoclonus syndrome after adenovirus infection. ( 26543770 )
2015
47
Early Detection and Treatment of Neuroblastic Tumor with Opsoclonus-Myoclonus Syndrome Improve Neurological Outcome: A Review of Five Cases at a Single Institution in Japan. ( 26409265 )
2015
48
Effect of Increased Immunosuppression on Developmental Outcome of Opsoclonus Myoclonus Syndrome (OMS). ( 25342308 )
2014
49
Cerebellar and cortical abnormalities in paediatric opsoclonus-myoclonus syndrome. ( 25290446 )
2014
50
Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report. ( 24968889 )
2014

Variations for Opsoclonus-Myoclonus Syndrome

Expression for Opsoclonus-Myoclonus Syndrome

Search GEO for disease gene expression data for Opsoclonus-Myoclonus Syndrome.

Pathways for Opsoclonus-Myoclonus Syndrome

Pathways related to Opsoclonus-Myoclonus Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 CXCL10 CXCL11 CXCL9 CXCR3 TNFSF13 TNFSF13B
2
Show member pathways
13.19 CXCL10 CXCL11 CXCL9 CXCR3 TNFSF13 TNFSF13B
3
Show member pathways
13.18 CXCL10 CXCL11 CXCL9 CXCR3 POMC
4
Show member pathways
12.88 CXCL10 CXCL11 CXCL9 CXCR3 TNFSF13 TNFSF13B
5
Show member pathways
12.7 CXCL10 CXCL11 CXCL9 CXCR3 TNFSF13 TNFSF13B
6
Show member pathways
12.47 CXCL11 CXCL9 TNFSF13 TNFSF13B
7
Show member pathways
12.46 CXCL10 CXCL11 CXCL9 CXCR3
8 11.58 CXCL10 TNFSF13 TNFSF13B
9 11.49 TNFSF13 TNFSF13B
10
Show member pathways
11.39 TNFSF13 TNFSF13B
11
Show member pathways
11.32 CXCL10 CXCL11 CXCL9 CXCR3
12 11.06 CXCL10 CXCL9
13 10.93 TNFSF13 TNFSF13B
14 10.46 CXCL10 CXCL11 CXCL9 CXCR3

GO Terms for Opsoclonus-Myoclonus Syndrome

Cellular components related to Opsoclonus-Myoclonus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 CXCL10 CXCL11 CXCL9 GPI POMC TNFSF13
2 external side of plasma membrane GO:0009897 9.33 CXCL10 CXCL9 CXCR3
3 extracellular space GO:0005615 9.17 CXCL10 CXCL11 CXCL9 GPI POMC TNFSF13

Biological processes related to Opsoclonus-Myoclonus Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.93 CXCL10 CXCL11 CXCL9 CXCR3 POMC
2 immune response GO:0006955 9.85 CXCL10 CXCL11 CXCL9 TNFSF13 TNFSF13B
3 inflammatory response GO:0006954 9.81 CXCL10 CXCL11 CXCL9 CXCR3
4 cell-cell signaling GO:0007267 9.8 CXCL10 CXCL11 CXCL9 POMC
5 regulation of cell proliferation GO:0042127 9.73 CXCL10 CXCL11 CXCL9
6 chemotaxis GO:0006935 9.73 CXCL10 CXCL11 CXCL9 CXCR3
7 response to lipopolysaccharide GO:0032496 9.72 CXCL10 CXCL11 CXCL9
8 defense response GO:0006952 9.7 CXCL10 CXCL11 CXCL9
9 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.58 CXCL10 CXCL11 CXCL9
10 positive regulation of leukocyte chemotaxis GO:0002690 9.54 CXCL10 CXCL11 CXCL9
11 positive regulation of cAMP-mediated signaling GO:0043950 9.5 CXCL10 CXCL11 CXCL9
12 regulation of signaling receptor activity GO:0010469 9.5 CXCL10 CXCL11 CXCL9 GPI POMC TNFSF13
13 chemokine-mediated signaling pathway GO:0070098 9.46 CXCL10 CXCL11 CXCL9 CXCR3
14 positive regulation of cAMP metabolic process GO:0030816 9.43 CXCL10 CXCL11 CXCL9
15 T cell chemotaxis GO:0010818 8.92 CXCL10 CXCL11 CXCL9 CXCR3
16 signal transduction GO:0007165 10.02 CXCL10 CXCL11 CXCL9 CXCR3 POMC TNFSF13

Molecular functions related to Opsoclonus-Myoclonus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.62 CXCL10 POMC TNFSF13 TNFSF13B
2 chemokine activity GO:0008009 9.43 CXCL10 CXCL11 CXCL9
3 tumor necrosis factor receptor binding GO:0005164 9.37 TNFSF13 TNFSF13B
4 CXCR chemokine receptor binding GO:0045236 9.33 CXCL10 CXCL11 CXCL9
5 CXCR3 chemokine receptor binding GO:0048248 9.13 CXCL10 CXCL11 CXCL9
6 cytokine activity GO:0005125 9.1 CXCL10 CXCL11 CXCL9 GPI TNFSF13 TNFSF13B

Sources for Opsoclonus-Myoclonus Syndrome

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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