{"Name":"Primary erythromelalgia","DiseaseID__c":"GARD:0006377","id":6377,"encodedName":"primary-erythromelalgia","IsDeleted":false,"Disease_Name_Full__c":"Primary erythromelalgia","Xref_IDs__c":"403390002; 709489006; C0014805; C125383; MEDGEN:8688; MONDO:0007571; OMIM:133020; ORPHA:90026","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":1,"Description_Source__c":"MONDO:0007571","Disease_Description__c":"Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.","GARD_Name__c":"Primary erythromelalgia","GARD_Synonym__c":"erythermalgia, primary; erythromelalgia type ii; perythm; primary erythermalgia; scn9a-related inherited erythromelalgia","Curated_Disease_Description_Source__c":"GARD:0006377","Curated_Disease_Description__c":"Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly. The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs. Erythromelalgia is often 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":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90026","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007571","ORPHANET_ID__c":"ORPHA:90026","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritromelalgia primaria","Spanish_Description_Source__c":"ORPHA:90026","Spanish_Description__c":"Es una enfermedad caracterizada por la tríada de enrojecimiento, calor y dolor de extremidades. Surge espontáneamente durante la primera infancia y la adolescencia en ausencia de cualquier trastorno subyacente detectable.","Spanish_Disease_Name__c":"eritromelalgia primaria","Spanish_GARD_Synonym__c":"eritermalgia primaria","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":"Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly. The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs. Erythromelalgia is often 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:0006377","GARD_Synonym__c":"erythermalgia, primary; erythromelalgia type ii; perythm; primary erythermalgia; scn9a-related inherited erythromelalgia","Name":"Primary erythromelalgia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"The Erythromelalgia Association","Website__c":"https://burningfeet.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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:90026"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0014805"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006377","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1163","Source__c":"Gene Review","Xref__c":"NBK1163"},{"URL__c":"https://www.orpha.net/en/disease/detail/90026","Source__c":"C0014805; MONDO:0007571; ORPHA:90026","Xref__c":"ORPHA:90026"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125383","Source__c":"C0014805; MONDO:0007571","Xref__c":"C125383"},{"URL__c":"https://www.omim.org/entry/133020","Source__c":"C0014805; MONDO:0007571; ORPHA:90026","Xref__c":"OMIM:133020"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709489006","Source__c":"MONDO:0007571","Xref__c":"709489006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0014805","Source__c":"C0014805","Xref__c":"C0014805"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8688","Source__c":"C0014805","Xref__c":"MEDGEN:8688"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007571","Source__c":"GARD:0006377","Xref__c":"MONDO:0007571"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403390002","Source__c":"C0014805","Xref__c":"403390002"}],"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:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain due to a stimulus that does not normally provoke pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012533","HPO_Name__c":"Allodynia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032147","HPO_Name__c":"Erythromelalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001909","HPO_Name__c":"Leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200101","HPO_Synonym__c":"Decreased/absent ankle reflexes","HPO_Name__c":"Decreased/absent ankle reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012534","HPO_Synonym__c":"Dysaesthesia; Hyperalgesia; Hyperpathia","HPO_Name__c":"Dysesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced body temperature due to failed thermoregulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002045","HPO_Synonym__c":"Abnormally low body temperature; Hypothermia","HPO_Name__c":"Hypothermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90026","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of platelets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001872","HPO_Synonym__c":"Platelet abnormalities","HPO_Name__c":"Abnormality of thrombocytes","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Vascular Medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["erythermalgia, primary"," erythromelalgia type ii"," perythm"," primary erythermalgia"," scn9a-related inherited erythromelalgia"]}