{"Name":"Familial episodic pain syndrome","DiseaseID__c":"GARD:0012684","id":12684,"encodedName":"familial-episodic-pain-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial episodic pain syndrome","Xref_IDs__c":"782756008; C5190598; DOID:0111728; MEDGEN:1682682; MONDO:0018319; OMIMPS:615040; ORPHA:391384","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:391384","Disease_Description__c":"Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","GARD_Name__c":"Familial episodic pain syndrome","GARD_Synonym__c":"feps; feps - familial episodic pain syndrome","Curated_Disease_Description_Source__c":"ORPHA:391384","Curated_Disease_Description__c":"A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:391384","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018319","ORPHANET_ID__c":"ORPHA:391384","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dolor episódico familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de dolor episódico familiar","Spanish_GARD_Synonym__c":"feps","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 genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","Curated_Disease_Description_Source__c":"ORPHA:391384","GARD_Synonym__c":"feps; feps - familial episodic pain syndrome","Name":"Familial episodic pain syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:391384"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:391384"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190598","Source__c":"C5190598","Xref__c":"C5190598"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1682682","Source__c":"C5190598","Xref__c":"MEDGEN:1682682"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS615040","Source__c":"MONDO:0018319","Xref__c":"OMIMPS:615040"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111728","Source__c":"MONDO:0018319","Xref__c":"DOID:0111728"},{"URL__c":"https://www.orpha.net/en/disease/detail/391384","Source__c":"C5190598; MONDO:0018319; ORPHA:391384","Xref__c":"ORPHA:391384"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018319","Source__c":"GARD:0012684","Xref__c":"MONDO:0018319"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782756008","Source__c":"C5190598","Xref__c":"782756008"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["feps"," feps - familial episodic pain syndrome"]}