{"orpha":90026,"name":"Primary erythromelalgia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary erythermalgia"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90026/","orphanet_url":"https://www.orpha.net/en/disease/detail/90026","names":{"fr":{"name":"Erythromélalgie primaire","synonyms":["Erythermalgie primaire"],"definition":"L'érythermalgie primaire (EP) ou idiopathique est caractérisée par des épisodes intermittents de rougeur, de sensation de chaleur et de brûlure des extrémités. Elle survient spontanément dans l'enfance ou l'adolescence en l'absence de maladie sous-jacente connue."},"de":{"name":"Erythromelalgie, primäre","definition":"Die Primäre Erythermalgie ist gekennzeichnet durch wiederkehrende Episoden mit roten, warmen, schmerzhaft brennenden Extremitäten. Die Krankheit beginnt spontan und ohne erkennbare Grundkrankheit in den Jahren zwischen früher Kindheit und Adoleszenz."},"es":{"name":"Eritromelalgia primaria","synonyms":["Eritermalgia primaria"],"definition":"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."},"it":{"name":"Eritermalgia primitiva"},"nl":{"name":"Primaire erytromelalgie","synonyms":["Primaire erythermalgie"],"definition":"Primaire erythermalgie wordt gekenmerkt door intermitterende aanvallen van rode, warme, pijnlijk branderig voelende extremiteiten. Het ontstaat spontaan tijdens de vroege kindertijd en adolescentie in afwezigheid van enige detecteerbare onderliggende aandoening."},"pt":{"name":"Eritermalgia primária"},"pl":{"name":"Pierwotna erytromelalgia","synonyms":["Primary erythermalgia"]},"cs":{"name":"Primární erythermalgie","synonyms":["Primary erythermalgia"]},"uk":{"name":"Первинна еритромелалгія","synonyms":["Первинна еритема"],"definition":"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."},"zh":{"name":"原发性红斑性肢痛病","synonyms":["原发性红斑性肢痛症"]},"tr":{"name":"Primer eritromelalji","synonyms":["Primer eritermalji"]}},"xrefs":[{"source":"OMIM","code":"133020","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I73.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EG00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"327001486"},{"source":"MONDO","code":"0007571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6377","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1956,"name":"OBSOLETE: Erythromelalgia","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140474,"name":"Autosomal dominant hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCN10A","name":"sodium voltage-gated channel alpha subunit 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10582","ensembl":"ENSG00000185313","omim":"604427","loci":["3p22.2"]},{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"]},{"symbol":"SCN9A","name":"sodium voltage-gated channel alpha subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15958509[PMID]","hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United States","status":"Validated","source":"18713229[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-01","source":"26920677[PMID]_20301342[PMID]","terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032147","label":"Erythromelalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012533","label":"Allodynia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null}]}}