{"Name":"Morvan syndrome","DiseaseID__c":"GARD:0009766","id":9766,"encodedName":"morvan-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Morvan syndrome","Xref_IDs__c":"763803004; C3854373; MEDGEN:1632829; MONDO:0008718; ORPHA:83467","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008718","Disease_Description__c":"Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.","GARD_Name__c":"Morvan syndrome","GARD_Synonym__c":"limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome; limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome; morvan fibrillary chorea; morvan's fibrillary chorea","Curated_Disease_Description_Source__c":"MONDO:0008718","Curated_Disease_Description__c":"Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:83467","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008718","ORPHANET_ID__c":"ORPHA:83467","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de morvan","Spanish_Description_Source__c":"ORPHA:83467","Spanish_Description__c":"El síndrome de Morvan es una enfermedad neurológica poco frecuente potencialmente mortal, adquirida, caracterizada por neuromiotonía, disautonomía y encefalopatía con insomnio grave. Se ha descrito la presencia de signos de afectación del sistema central (por ejemplo, alucinaciones, confusión, amnesia, mioclono), autónomo (por ejemplo, variaciones en la presión arterial, hiperhidrosis) y periférico (por ejemplo, calambres dolorosos, mioquimia) e hiperactividad, así como manifestaciones sistémicas (como pérdida de peso, prurito, fiebre). En algunos casos puede asociarse un timoma.","Spanish_Disease_Name__c":"síndrome de morvan","Spanish_GARD_Synonym__c":"corea fibrilar de morvan; encefalitis límbica-neuromiotonía-hiperhidrosis-polineuropatía; síndrome de encefalitis límbica-neuromiotonía-hiperhidrosis-polineuropatía","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":"Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.","Curated_Disease_Description_Source__c":"MONDO:0008718","GARD_Synonym__c":"limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome; limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome; morvan fibrillary chorea; morvan's fibrillary chorea","Name":"Morvan syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:83467"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0751540"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3854373","Source__c":"C3854373","Xref__c":"C3854373"},{"URL__c":"https://www.orpha.net/en/disease/detail/83467","Source__c":"C3854373; MONDO:0008718; ORPHA:83467","Xref__c":"ORPHA:83467"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763803004","Source__c":"C3854373; MONDO:0008718","Xref__c":"763803004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1632829","Source__c":"C3854373","Xref__c":"MEDGEN:1632829"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008718","Source__c":"GARD:0009766","Xref__c":"MONDO:0008718"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83467","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5000005","HPO_Synonym__c":"Anti-Caspr2 antibody; Anti-contactin-associated protein-like 2 antibody","HPO_Name__c":"Anti-CASPR2","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Epilepsy","Neuromuscular medicine"],"Account":["Peripheral Neuropathy","Epilepsy"]},"synonyms":["limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome"," limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome"," morvan fibrillary chorea"," morvan's fibrillary chorea"]}