{"Name":"Familial recurrent peripheral facial palsy","DiseaseID__c":"GARD:0016609","id":16609,"encodedName":"familial-recurrent-peripheral-facial-palsy","IsDeleted":false,"Disease_Name_Full__c":"Familial recurrent peripheral facial palsy","Xref_IDs__c":"783257005; C1851399; C565028; MEDGEN:342742; MONDO:0007592; OMIM:134200; ORPHA:2809","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:2809","Disease_Description__c":"Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.","GARD_Name__c":"Familial recurrent peripheral facial palsy","GARD_Synonym__c":"familial recurrent bell palsy","Curated_Disease_Description_Source__c":"ORPHA:2809","Curated_Disease_Description__c":"A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2809","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007592","ORPHANET_ID__c":"ORPHA:2809","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis facial periférica familiar recurrente","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis facial periférica familiar recurrente","Spanish_GARD_Synonym__c":"parálisis familiar recurrente de bell","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":"A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.","Curated_Disease_Description_Source__c":"ORPHA:2809","GARD_Synonym__c":"familial recurrent bell palsy","Name":"Familial recurrent peripheral facial palsy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Facial Paralysis & Bell's Palsy Foundation","Website__c":"https://facialparalysisfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2809"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2809"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2809"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/134200","Source__c":"C1851399; MONDO:0007592; ORPHA:2809","Xref__c":"OMIM:134200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565028","Source__c":"MONDO:0007592","Xref__c":"C565028"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851399","Source__c":"C1851399","Xref__c":"C1851399"},{"URL__c":"https://www.orpha.net/en/disease/detail/2809","Source__c":"C1851399; MONDO:0007592; ORPHA:2809","Xref__c":"ORPHA:2809"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342742","Source__c":"C1851399","Xref__c":"MEDGEN:342742"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783257005","Source__c":"C1851399","Xref__c":"783257005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007592","Source__c":"GARD:0016609","Xref__c":"MONDO:0007592"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:134200","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["familial recurrent bell palsy"]}