{"orpha":701,"name":"Alopecia universalis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-701/","orphanet_url":"https://www.orpha.net/en/disease/detail/701","names":{"fr":{"name":"Pelade universelle","definition":"La pelade universelle est la forme la plus sévère d'alopécie areata, une maladie inflammatoire du follicule pileux. Elle est caractérisée par une absence complète de cheveux au niveau du cuir chevelu et de poils dans toutes les zones pileuses du corps."},"de":{"name":"Alopecia universalis","definition":"Die Alopecia universalis ist die schwerste Form der Alopecia areata, einer entzündlichen Erkrankung des Haarfollikels. Kennzeichnend ist ein vollständiger Verlust der Kopfhaare und aller haartragenden Bereiche des Körpers."},"es":{"name":"Alopecia universal","definition":"Es la forma más grave de alopecia areata, una enfermedad inflamatoria del folículo piloso, que se caracteriza por una pérdida completa del pelo del cuero cabelludo y de todas las áreas del cuerpo con vello."},"it":{"name":"Alopecia universale","definition":"L'alopecia universale è la forma più grave dell'alopecia areata, una malattia infiammatoria dei follicoli piliferi, che si caratterizza per la perdita completa dei capelli e di tutti gli altri peli corporei."},"nl":{"name":"Alopecia universalis","definition":"De meest ernstige vorm van alopecia areata, een inflammatoire ziekte van haarfollikels, gekarakteriseerd door volledig verlies van haar op de hoofdhuid en alle behaarde lichaamsdelen."},"pt":{"name":"Alopecia universalis"},"pl":{"name":"Utrata włosów na całym ciele"},"cs":{"name":"Alopecia universalis"},"uk":{"name":"Універсальна алопеція","definition":"A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body."},"zh":{"name":"全身毛发脱失"},"tr":{"name":"Alopesi universalis"}},"xrefs":[{"source":"OMIM","code":"104000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"203655","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610753","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L63.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"ED70.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"69070500"},{"source":"MeSH","code":"C537055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263505","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"HR","name":"HR lysine demethylase and nuclear receptor corepressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9445480[PMID]","hgnc":"5172","ensembl":"ENSG00000168453","omim":"602302","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2006[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-15","source":"27608049[PMID]","terms":[{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002289","label":"Alopecia universalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}