{"orpha":41,"name":"Dyschromatosis symmetrica hereditaria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acropigmentation of Dohi"],"definition":"A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-41/","orphanet_url":"https://www.orpha.net/en/disease/detail/41","names":{"fr":{"name":"Dyschromatose symétrique des extrémités","synonyms":["Acropigmentation de Dohi"],"definition":"Génodermatose rare caractérisée par la présence d'un mélange de macules hyperpigmentées et hypopigmentées d'environ 5 mm de diamètre, principalement situées sur les extrémités."},"de":{"name":"Dyschromatosis symmetrica hereditaria","synonyms":["Retikuläre Akropigmentierung Dohi"],"definition":"Eine seltene Genodermatose, die durch eine Mischung aus hyperpigmentierten und hypopigmentierten Makulae mit einem Durchmesser von etwa 5 mm gekennzeichnet ist, die sich hauptsächlich an den Extremitäten befinden."},"es":{"name":"Discromatosis simétrica hereditaria","synonyms":["Acropigmentación de Dohi"],"definition":"Es una genodermatosis poco frecuente caracterizada por la presencia de una mezcla de máculas hiper- e hipopigmentadas de aproximadamente 5 mm de diámetro, ubicadas principalmente en las extremidades."},"it":{"name":"Discromatosi simmetrica ereditaria","synonyms":["Acropigmentazione di Dohi"]},"nl":{"name":"Dyschromatosis symmetrica hereditaria","synonyms":["Acropigmentatie van Dohi","Erfelijke symmetrische dyschromatose"],"definition":"Een zeldzame genodermatose, gekenmerkt door aanwezigheid van een mengeling van gehyperpigmenteerde en gehypopigmenteerde maculae met een diameter van ongeveer 5mm, vooral gesitueerd op extremiteiten."},"pt":{"name":"Acropigmentação de Dohi","synonyms":["Discromatose simétrica hereditária"],"definition":"Genodermatose rara caracterizada pela presença de uma mistura de máculas hiperpigmentadas e hipopigmentadas com aproximadamente 5 mm de diâmetro, localizadas principalmente nas extremidades."},"pl":{"name":"Dziedziczna dyschromatoza symetryczna","synonyms":["Acropigmentation of Dohi"],"definition":"Rzadka genodermatoza charakteryzująca się obecnością plam hiperpigmentowanych i hipopigmentowanych o średnicy około 5 mm, zlokalizowanych głównie na kończynach."},"cs":{"name":"Dyschromatosis symmetrica hereditaria","synonyms":["Dohiho akropigmentace"]},"uk":{"name":"Спадковий симетричний дисхроматоз","synonyms":["Акропігментація Дохі"],"definition":"A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities."},"zh":{"name":"遗传性对称性色素异常症","synonyms":["多伊肢端色素沉着"]},"tr":{"name":"Diskromatoz simetrika hereditaria","synonyms":["Dohi'nin akropigmentasyonu"]}},"xrefs":[{"source":"OMIM","code":"127400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1506483461"},{"source":"MONDO","code":"0007483","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406775","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"ADAR","name":"adenosine deaminase RNA specific","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12916015[PMID]","hgnc":"225","ensembl":"ENSG00000160710","omim":"146920","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Japan","status":"Validated","source":"12916015[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011509","label":"Macular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007988","label":"Macular hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Frequent (79-30%)","criteria":null}]}}