{"Name":"Opsoclonus-myoclonus syndrome","DiseaseID__c":"GARD:0010009","id":10009,"encodedName":"opsoclonus-myoclonus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Opsoclonus-myoclonus syndrome","Xref_IDs__c":"230350000; C0393626; C4686; D053578; MEDGEN:97955; MONDO:0015247; ORPHA:1183","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015247","Disease_Description__c":"Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.","GARD_Name__c":"Opsoclonus-myoclonus syndrome","GARD_Synonym__c":"ataxo-opso-myoclonus syndrome; dancing eye syndrome; dancing eye-dancing feet syndrome; dancing eyes-dancing feet syndrome; infantile polymyoclonus; kinsbourne syndrome; oma syndrome; oms; opsoclonus myoclonus syndrome; opsoclonus-myoclonus-ataxia syndrome; paraneoplastic opsoclonus-myoclonus; paraneoplastic opsoclonus-myoclonus-ataxia syndrome; poma syndrome","Curated_Disease_Description_Source__c":"GARD:0010009","Curated_Disease_Description__c":"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 disease may become chronic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:1183","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015247","ORPHANET_ID__c":"ORPHA:1183","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome opsoclono-mioclono","Spanish_Description_Source__c":"ORPHA:1183","Spanish_Description__c":"El síndrome de opsoclono-mioclono (OMS) es una enfermedad neuroinflamatoria rara de origen paraneoplásico, parainfeccioso o idiopático, caracterizada por opsoclono, mioclono, ataxia, y trastornos del comportamiento y del sueño.","Spanish_Disease_Name__c":"síndrome opsoclono-mioclono","Spanish_GARD_Synonym__c":"oms; opsoclono-mioclono paraneoplásico; síndrome ataxo-opso-mioclono; síndrome de kinsbourne; síndrome de los ojos bailarines; síndrome de ojos bailarines-pies bailarines; síndrome de opsoclono-mioclono-ataxia; síndrome de opsoclono-mioclono-ataxia paraneoplásico; síndrome oma; síndrome poma","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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 disease may become chronic.","Curated_Disease_Description_Source__c":"GARD:0010009","GARD_Synonym__c":"ataxo-opso-myoclonus syndrome; dancing eye syndrome; dancing eye-dancing feet syndrome; dancing eyes-dancing feet syndrome; infantile polymyoclonus; kinsbourne syndrome; oma syndrome; oms; opsoclonus myoclonus syndrome; opsoclonus-myoclonus-ataxia syndrome; paraneoplastic opsoclonus-myoclonus; paraneoplastic opsoclonus-myoclonus-ataxia syndrome; poma syndrome","Name":"Opsoclonus-myoclonus syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Federación de Ataxias de España","Website__c":"https://fedaes.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Dancing Eye Syndrome Support Trust","Website__c":"https://dancingeyes.org.uk/"},{"Account_Name__c":"OMSLife Foundation","Website__c":"https://omslifefoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1183"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1183"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97955","Source__c":"C0393626","Xref__c":"MEDGEN:97955"},{"URL__c":"https://www.orpha.net/en/disease/detail/1183","Source__c":"C0393626; MONDO:0015247; ORPHA:1183","Xref__c":"ORPHA:1183"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230350000","Source__c":"C0393626; MONDO:0015247","Xref__c":"230350000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393626","Source__c":"C0393626","Xref__c":"C0393626"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4686","Source__c":"C0393626; MONDO:0015247","Xref__c":"C4686"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053578","Source__c":"C0393626; MONDO:0015247","Xref__c":"D053578"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015247","Source__c":"GARD:0010009","Xref__c":"MONDO:0015247"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bursts of large-amplitude multidirectional saccades without intersaccadic interval","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010543","HPO_Name__c":"Opsoclonus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030357","HPO_Synonym__c":"Oat cell carcinoma of lung; Oat cell lung cancer; Small cell lung cancer","HPO_Name__c":"Small cell lung carcinoma","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000570","HPO_Synonym__c":"Abnormality of saccadic eye movements","HPO_Name__c":"Abnormal saccadic eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000002","HPO_Name__c":"Anti-Amphiphysin antibody","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a teratoma in the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012226","HPO_Name__c":"Ovarian teratoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045084","HPO_Synonym__c":"Myoclonus of limbs","HPO_Name__c":"Limb myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. 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In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["ataxo-opso-myoclonus syndrome"," dancing eye syndrome"," dancing eye-dancing feet syndrome"," dancing eyes-dancing feet syndrome"," infantile polymyoclonus"," kinsbourne syndrome"," oma syndrome"," oms"," opsoclonus myoclonus syndrome"," opsoclonus-myoclonus-ataxia syndrome"," paraneoplastic opsoclonus-myoclonus"," paraneoplastic opsoclonus-myoclonus-ataxia syndrome"," poma syndrome"],"spanishId":12905,"spanishName":"sindrome-de-opsoclono-mioclono"}