{"orpha":171723,"name":"White sponge nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary mucosal leukokeratosis","White sponge nevus of Cannon"],"definition":"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171723/","orphanet_url":"https://www.orpha.net/en/disease/detail/171723","names":{"fr":{"name":"Naevus blanc spongieux","synonyms":["Hamartome muqueux spongieux","Leucokératose mucosale héréditaire","Naevus spongieux blanc de Cannon","White sponge naevus"],"definition":"Le naevus blanc spongieux est une maladie génétique rare, autosomique dominante, caractérisée par une muqueuse buccale blanche ou grise, épaissie, d'aspect pliée et spongieuse. La maladie survient tôt dans la vie. Elle affecte les femmes et les hommes de la même manière. Les autres sites fréquents incluent la langue, le plancher buccal et la muqueuse alvéolaire."},"de":{"name":"Schleimhaut-Naevus, weißer","synonyms":["Leukokeratose, mukosale, hereditäre","Weißer Schleimhaut-Naevus Typ Cannon"]},"es":{"name":"Nevo blanco esponjoso","synonyms":["Leucoqueratosis mucosa hereditaria","Nevo blanco esponjoso de Cannon"],"definition":"Es una enfermedad genética autosómica dominante, poco frecuente, en la que la mucosa oral es blanquecina o grisácea, engrosada, plegada y esponjosa. Se manifiesta a una edad temprana y afecta a pacientes de ambos sexos por igual. Otras localizaciones anatómicas comunes incluyen la lengua, el suelo de la boca y la mucosa alveolar."},"it":{"name":"Nevo bianco spongiforme","synonyms":["Leucocheratosi ereditaria delle mucose","Nevo bianco spongiforme di Cannon"]},"nl":{"name":"Witte sponsachtige naevus","synonyms":["Erfelijke mucosale leukokeratose","Witte sponsachtige naevus van Cannon"],"definition":"Witte sponsachtige naevus (WSN) is een zeldzame en autosomaal dominante genetische ziekte waarbij het wangslijmvlies wit of grijsachtig, verdikt, geplooid en sponzig is. De aanvang vindt vroeg in het leven plaats, en beide geslachten worden gelijkwaardig getroffen. Andere gebieden van het lichaam die geregeld getroffen worden zijn de tong, de mondbodem, en het alveolaire slijmvlies."},"pt":{"name":"Nevo branco esponjoso"},"pl":{"name":"Znamię gąbczaste białe","synonyms":["Dziedziczna leukokeratoza błony śluzowej","Znamię gąbczaste białe Cannona"]},"cs":{"name":"Dědičná slizniční leukokeratóza","synonyms":["Hereditary mucosal leukokeratosis","White sponge nevus of Cannon"]},"uk":{"name":"Білий губчастий невус","synonyms":["Спадковий лейкокератоз слизових оболонок","Білий губчастий невус Кеннона"],"definition":"White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa."},"zh":{"name":"白色海绵状痣","synonyms":["遗传性粘膜白斑病"],"definition":"白色海绵状痣是一种罕见的常染色体显性遗传病，其主要临床表现为口腔黏膜呈白色或灰白色，呈增厚、折叠、海绵状。发病年龄小，男女发病率相似。其他常见累及部位包括舌头、口底和牙槽粘膜。"},"tr":{"name":"Beyaz sünger nevüs","synonyms":["Cannon beyaz sünger nevüsü","Kalıtsal mukozal lökokeratoz"]}},"xrefs":[{"source":"OMIM","code":"193900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615785","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q38.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"DA02.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1579656080"},{"source":"MONDO","code":"0015748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1721005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072666","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"KRT13","name":"keratin 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7493031[PMID]_10561721[PMID]_11379896[PMID]_14600690[PMID]","hgnc":"6415","ensembl":"ENSG00000171401","omim":"148065","loci":["17q21.2"]},{"symbol":"KRT4","name":"keratin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10652003[PMID]_12828738[PMID]_23182699[PMID]","hgnc":"6441","ensembl":"ENSG00000170477","omim":"123940","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}