{"orpha":2841,"name":"Hailey-Hailey disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benign chronic familial pemphigus"],"definition":"A rare, genetic, chronic epidermal disorder characterized by diffuse bilateral (or, rarely, localized segmental) erythematous plaques with blistering, erosions, maceration, and frequent secondary infection involving the flexural areas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2841/","orphanet_url":"https://www.orpha.net/en/disease/detail/2841","names":{"fr":{"name":"Maladie de Hailey-Hailey","synonyms":["Pemphigus bénin chronique familial"],"definition":"Maladie de l'épiderme chronique rare et génétique caractérisée par des plaques érythémateuses bilatérales diffuses (ou, rarement, segmentaires et localisées) accompagnées de vésicules, d'érosions, de macérations et d'une infection secondaire fréquente dans les zones de flexion."},"de":{"name":"Hailey-Hailey-Krankheit","synonyms":["Benigner chronischer familiärer Pemphigus"],"definition":"Eine genetisch bedingte chronische epidermale Erkrankung, die durch diffuse, bilaterale (oder selten lokalisierte, segmentale) erythematöse Plaques mit Blasenbildung, Erosionen, Mazeration und häufigen Sekundärinfektionen in den Beugebereichen gekennzeichnet ist."},"es":{"name":"Enfermedad de Hailey-Hailey","synonyms":["Pénfigo benigno crónico familiar"],"definition":"Es un trastorno epidérmico crónico, de origen genético y poco frecuente, caracterizado por placas eritematosas bilaterales difusas (o, rara vez, segmentarias localizadas) con ampollas, erosiones, maceración y frecuentes infecciones secundarias que afecta a las áreas de flexión."},"it":{"name":"Malattia di Hailey-Hailey","synonyms":["Pemfigo benigno cronico familiare","Pemfigo benigno cronico familiare di Hailey-Hailey"]},"nl":{"name":"Ziekte van Hailey-Hailey","synonyms":["Goedaardige chronische familiale pemfigus"],"definition":"Een zeldzame, genetische, chronische epidermale aandoening, gekenmerkt door diffuse bilaterale (of zelden gelokaliseerde segmentale) erythemateuze plaques met blaarvorming, erosies, maceratie, en vaak secundaire infectie van buigzijden."},"pt":{"name":"Doença Hailey-Hailey","synonyms":["Pênfigo crónico benigno familiar Hailey-Hailey"],"definition":"Doença epidérmica crónica, genética e rara, caracterizada por placas eritematosas bilaterais difusas (ou, raramente, segmentares localizadas) com bolhas, erosões, maceração e infeção secundária frequente envolvendo as áreas flexurais."},"pl":{"name":"Rodzinna łagodna pęcherzyca przewlekła","synonyms":["Choroba Hailey'a i Hailey'a","Rodzinna łagodna pęcherzyca Haileya i Haileya","Rodzinna łagodna przewlekła pęcherzyca","Choroba Haileya-Haileya"]},"cs":{"name":"Familiární benigní chronický pemfigus","synonyms":["Haileyova-Haileyova nemoc","Haileyův-Haileyův familiární benigní chronický pemfigus","Hailey-Haileyův familiární benigní chronický pemfigus","Hailey-Haileyova nemoc"]},"uk":{"name":"Хвороба Хейлі-Хейлі","synonyms":["Доброякісний хронічний сімейний пемфігус Хейлі-Хейлі"],"definition":"Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)."},"zh":{"name":"家族性良性慢性天疱疮","synonyms":["Hailey-Hailey良性慢性家族性天疱疮"]},"tr":{"name":"Ailesel selim kronik pemfigus","synonyms":["Hailey-Hailey hastalığı","Hailey-Hailey selim kronik ailesel pemfigusu"]}},"xrefs":[{"source":"OMIM","code":"169600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EC20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"818400628"},{"source":"MONDO","code":"0008218","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085106","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183426,"name":"Genetic epidermal disorder","classifications":[156]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]}],"children":[],"genes":[{"symbol":"ATP2C1","name":"ATPase secretory pathway Ca2+ transporting 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10615129[PMID]","hgnc":"13211","ensembl":"ENSG00000017260","omim":"604384","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Validated","source":"27057511[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Very frequent (99-80%)","criteria":null}]}}