{"Name":"Paroxysmal extreme pain disorder","DiseaseID__c":"GARD:0012854","id":12854,"encodedName":"paroxysmal-extreme-pain-disorder","IsDeleted":false,"Disease_Name_Full__c":"Paroxysmal extreme pain disorder","Xref_IDs__c":"699190008; C125385; C1833661; C563475; DOID:0111537; MEDGEN:331565; MONDO:0008179; OMIM:167400; ORPHA:46348","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008179","Disease_Description__c":"A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.","GARD_Name__c":"Paroxysmal extreme pain disorder","GARD_Synonym__c":"familial rectal pain; pain, submandibular, ocular, and rectal, with flushing; pexpd; rectal pain, familial; submandibular, ocular and rectal pain with flushing","Curated_Disease_Description_Source__c":"GARD:0012854","Curated_Disease_Description__c":"Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.","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:46348","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008179","ORPHANET_ID__c":"ORPHA:46348","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno del dolor extremo paroxístico","Spanish_Description_Source__c":"ORPHA:46348","Spanish_Description__c":"Es un trastorno neurológico, genético y poco frecuente, caracterizado por un intenso dolor perirrectal episódico acompañado de enrojecimiento de la piel generalmente desencadenado por la defecación. El dolor ocular y submaxilar, asociado a desencadenantes como el frío u otros irritantes, puede exarcerbarse con la edad.","Spanish_Disease_Name__c":"trastorno del dolor extremo paroxístico","Spanish_GARD_Synonym__c":null,"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":"Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.","Curated_Disease_Description_Source__c":"GARD:0012854","GARD_Synonym__c":"familial rectal pain; pain, submandibular, ocular, and rectal, with flushing; pexpd; rectal pain, familial; submandibular, ocular and rectal pain with flushing","Name":"Paroxysmal extreme pain disorder","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Chronic Pain Association","Website__c":"https://www.acpanow.com/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:46348"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:46348"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833661"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012854","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1163","Source__c":"Gene Review","Xref__c":"NBK1163"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563475","Source__c":"MONDO:0008179","Xref__c":"C563475"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331565","Source__c":"C1833661","Xref__c":"MEDGEN:331565"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699190008","Source__c":"C1833661; MONDO:0008179","Xref__c":"699190008"},{"URL__c":"https://www.orpha.net/en/disease/detail/46348","Source__c":"C1833661; MONDO:0008179; ORPHA:46348","Xref__c":"ORPHA:46348"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111537","Source__c":"MONDO:0008179","Xref__c":"DOID:0111537"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833661","Source__c":"C1833661","Xref__c":"C1833661"},{"URL__c":"https://www.omim.org/entry/167400","Source__c":"C1833661; MONDO:0008179; ORPHA:46348","Xref__c":"OMIM:167400"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125385","Source__c":"C1833661; MONDO:0008179","Xref__c":"C125385"},{"URL__c":"https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder","Source__c":"GARD:0012854","Xref__c":"https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008179","Source__c":"GARD:0012854","Xref__c":"MONDO:0008179"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN9A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn9a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:46348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["familial rectal pain"," pain, submandibular, ocular, and rectal, with flushing"," pexpd"," rectal pain, familial"," submandibular, ocular and rectal pain with flushing"]}