{"orpha":2884,"name":"Piebaldism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2884/","orphanet_url":"https://www.orpha.net/en/disease/detail/2884","names":{"fr":{"name":"Piébaldisme","definition":"Le piébaldisme est un trouble congénital rare de la pigmentation cutanée caractérisé par la présence de zones hypopigmentées et dépigmentées (leucodermie) à plusieurs endroits du corps, préférentiellement sur le front, le torse, l'abdomen, les avant-bras et les extrémités inférieures, en association avec une mèche blanche (poliose) et dans certains cas des sourcils et des cils hypopigmentés et dépigmentés."},"de":{"name":"Piebaldismus","definition":"Piebaldismus ist eine seltene kongenitale Pigmentstörung der Haut und gekennzeichnet durch hypo- und depigmentierte Hautareale (Leukoderma) an verschiedenen Stellen des Körpers, vor allem an Stirn, Brustkorb, Abdomen, Oberarmen und unteren Extremitäten, in Verbindung mit einer weißen Stirnlocke (Poliosis) und in einigen Fällen mit hypopigmentierten und depigmentierten Augenbrauen und Wimpern."},"es":{"name":"Piebaldismo","definition":"El piebaldismo es un trastorno raro y congénito de la pigmentación de la piel que se caracteriza por la presencia de áreas de la piel hipopigmentadas y despigmentadas (leucoderma) en varias partes del cuerpo, mayoritariamente en la frente, el pecho, el abdomen, la parte superior de los brazos y las extremidades inferiores, que están asociadas con mechones blancos (poliosis) y, en algunos casos, con cejas y pestañas hipopigmentadas y despigmentadas."},"it":{"name":"Piebaldismo","definition":"Il piebaldismo è un disturbo congenito raro della pigmentazione cutanea, caratterizzato dalla presenza di aree cutanee ipopigmentate e depigmentate (leucoderma) in diverse parti del corpo, che tendono a localizzarsi prevalentemente sulla fronte, sul torace, sull'addome e sugli arti inferiori, in associazione a una frezza di capelli bianchi (poliosi) e, in alcuni casi, a sopracciglia e ciglia ipopigmentate e depigmentate."},"nl":{"name":"Piebaldisme","definition":"Een zeldzame congenitale aandoening van huidpigmentatie, gekenmerkt door de aanwezigheid gehypopigmenteerde en gedepigmenteerde gebieden van huid (leukodermie) op verschillende delen van het lichaam, vooral op voorhoofd, borstkas, abdomen, bovenarmen, en onderste extremiteiten, geassocieerd met een witte voorhoofdslok (poliose), en in sommige gevallen met gehypopigmenteerde en gedepigmenteerde wenkbrauwen en wimpers."},"pt":{"name":"Piebaldismo"},"pl":{"name":"Piebaldyzm"},"cs":{"name":"Piebaldismus"},"uk":{"name":"Пєбальдизм","definition":"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes."},"zh":{"name":"斑驳病"},"tr":{"name":"Piebaldizm"}},"xrefs":[{"source":"OMIM","code":"172800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2089421143"},{"source":"MONDO","code":"0008244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0080024","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4344","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084262","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22670867[PMID]_25199540[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]},{"symbol":"SNAI2","name":"snail family transcriptional repressor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12955764[PMID]_24443330[PMID]","hgnc":"11094","ensembl":"ENSG00000019549","omim":"602150","loci":["8q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007544","label":"Piebaldism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}