{"orpha":2387,"name":"Leukonychia totalis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2387/","orphanet_url":"https://www.orpha.net/en/disease/detail/2387","names":{"fr":{"name":"Leuconychie totale","definition":"Une anomalie unguéale rare caractérisé par la coloration complète des ongles en blanc. Habituellement, le seul signe clinique est la présence d'ongles ayant un aspect crayeux, mais d'autres manifestations cutanées ou systémiques peuvent aussi être présentes."},"de":{"name":"Leukonychia totalis","definition":"Leukonychia totalis ist eine seltene Nagelanomalie, die durch eine vollständige Weißverfärbung der Nägel gekennzeichnet ist. Die Patienten zeigen typischerweise weiße, kreidige Nägel als isolierten Befund, obwohl auch andere kutane oder systemische Manifestationen vorhanden sein können."},"es":{"name":"Leuconiquia total","definition":"Es un trastorno de anomalías de las uñas poco frecuente que se caracteriza por una decoloración blanca completa de las uñas. Los afectados suelen presentar uñas blancas y calcáreas como único hallazgo, aunque también pueden estar presentes otras manifestaciones cutáneas o sistémicas."},"it":{"name":"Leuconichia totale","synonyms":["Sindrome di Gorlin-Bushkell-Jensen"],"definition":"La leuconichia totale è un'anomalia rara delle unghie, caratterizzata dalla completa decolorazione delle unghie che appaiono bianche. Di solito l'unico segno clinico è lo sbiancamento delle unghie che assumono un aspetto simile al gesso; tuttavia possono anche essere presenti altri segni cutanei o di tipo sistemico."},"nl":{"name":"Leukonychia totalis","definition":"Leukonychia totalis is een zeldzame anomalie van de nagels die gekarakteriseerd wordt door volledige witte verkleuring van de nagels. Patiënten vertonen doorgaans witte, kalkachtige nagels als een geïsoleerde bevinding, hoewel andere cutane of systemische manifestaties ook aanwezig kunnen zijn."},"pt":{"name":"Leuconiquia total","synonyms":["Síndrome Gorlin-Bushkell-Jensen"]},"pl":{"name":"Bielactwo paznokci całkowite"},"cs":{"name":"Totální leukonychie"},"uk":{"name":"Leukonychia totalis","definition":"Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present."},"zh":{"name":"全白甲"},"tr":{"name":"Lökonişi totalis"}},"xrefs":[{"source":"OMIM","code":"151600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"609480155"},{"source":"MONDO","code":"0016557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551625","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"PLCD1","name":"phospholipase C delta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21665001[PMID]","hgnc":"9060","ensembl":"ENSG00000187091","omim":"602142","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":44.0,"area":"Worldwide","status":"Validated","source":"29805369[PMID]_19401242[PMID]_30003652[PMID]_36987828[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29805369[PMID]_19401242[PMID]_30003652[PMID]_36987828[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}