{"Name":"CANOMAD syndrome","DiseaseID__c":"GARD:0009778","id":9778,"encodedName":"canomad-syndrome","IsDeleted":false,"Disease_Name_Full__c":"CANOMAD syndrome","Xref_IDs__c":"715624006; C2931684; C537980; MEDGEN:419872; MONDO:0019109; ORPHA:71279","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019109","Disease_Description__c":"A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.","GARD_Name__c":"CANOMAD syndrome","GARD_Synonym__c":"canda syndrome; canomad (chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies) syndrome; chronic ataxic neuropathy-ophthalmoplegia-igm paraprotein-cold agglutinins-disialosyl antibodies syndrome; chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies; chronic ataxic neuropathy, ophthalmoplegia, monoclonal immunoglobulin m protein, cold agglutinin and disialosyl antibody syndrome; chronic sensory ataxic neuropathy with anti-disialosyl igm antibodies; chronic sensory ataxic neuropathy with anti-dyalosyl igm antibodies","Curated_Disease_Description_Source__c":"GARD:0009778","Curated_Disease_Description__c":"CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. CANOMAD stands for Chronic Ataxic Neuropathy Ophthalmoplegia IgM paraprotein Cold Agglutinins Disialosyl antibodies. Signs and symptoms of CANOMAD may include loss of muscle, tendon, and joint sensation, abnormal gait (walk), ataxia, tingling sensation on the skin around the mouth or extremities, paralysis of eye muscles, difficulty swallowing and speaking, and rarely respiratory muscle weakness. This condition is caused by the presence of anti-diasialosyl antibodies in the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:71279","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019109","ORPHANET_ID__c":"ORPHA:71279","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome canomad","Spanish_Description_Source__c":"ORPHA:71279","Spanish_Description__c":"Es una polineuropatía crónica poco frecuente causada por el sistema inmunitario caracterizada por una neuropatía incapacitante progresiva con grave alteración de la marcha debida fundamentalmente a una ataxia sensitiva con neuropatías craneales concurrentes (oftalmoplejía interna o externa, disfagia, disartria o debilidad facial) y anticuerpos IgM anti-disialosil.","Spanish_Disease_Name__c":"síndrome canomad","Spanish_GARD_Synonym__c":"neuropatía crónica atáxica sensorial con anticuerpos igm antidisialosil; síndrome canda; síndrome de neuropatía atáxica crónica-oftalmoplejía-paraproteína igm-aglutininas frías-anticuerpos disialosil","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":"CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. CANOMAD stands for Chronic Ataxic Neuropathy Ophthalmoplegia IgM paraprotein Cold Agglutinins Disialosyl antibodies. Signs and symptoms of CANOMAD may include loss of muscle, tendon, and joint sensation, abnormal gait (walk), ataxia, tingling sensation on the skin around the mouth or extremities, paralysis of eye muscles, difficulty swallowing and speaking, and rarely respiratory muscle weakness. This condition is caused by the presence of anti-diasialosyl antibodies in the body.","Curated_Disease_Description_Source__c":"GARD:0009778","GARD_Synonym__c":"canda syndrome; canomad (chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies) syndrome; chronic ataxic neuropathy-ophthalmoplegia-igm paraprotein-cold agglutinins-disialosyl antibodies syndrome; chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies; chronic ataxic neuropathy, ophthalmoplegia, monoclonal immunoglobulin m protein, cold agglutinin and disialosyl antibody syndrome; chronic sensory ataxic neuropathy with anti-disialosyl igm antibodies; chronic sensory ataxic neuropathy with anti-dyalosyl igm antibodies","Name":"CANOMAD 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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:71279"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:71279"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931684","Source__c":"C2931684","Xref__c":"C2931684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715624006","Source__c":"C2931684; MONDO:0019109","Xref__c":"715624006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537980","Source__c":"MONDO:0019109","Xref__c":"C537980"},{"URL__c":"https://www.orpha.net/en/disease/detail/71279","Source__c":"C2931684; MONDO:0019109; ORPHA:71279","Xref__c":"ORPHA:71279"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419872","Source__c":"C2931684","Xref__c":"MEDGEN:419872"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019109","Source__c":"GARD:0009778","Xref__c":"MONDO:0019109"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["canda syndrome"," canomad (chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies) syndrome"," chronic ataxic neuropathy-ophthalmoplegia-igm paraprotein-cold agglutinins-disialosyl antibodies syndrome"," chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies"," chronic ataxic neuropathy, ophthalmoplegia, monoclonal immunoglobulin m protein, cold agglutinin and disialosyl antibody syndrome"," chronic sensory ataxic neuropathy with anti-disialosyl igm antibodies"," chronic sensory ataxic neuropathy with anti-dyalosyl igm antibodies"]}