{"orpha":841,"name":"Sebocystomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Steatocystoma multiplex"],"definition":"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-841/","orphanet_url":"https://www.orpha.net/en/disease/detail/841","names":{"fr":{"name":"Sébocystomatose","definition":"La sébocystomatose est caractérisée par des kystes épidermiques asymptomatiques et multiples (100 à 2.000) qui apparaissent en général sur le sternum, le haut du dos, les aisselles, et les parties proximales des extrémités."},"de":{"name":"Sebozystomatose","synonyms":["Steatocystoma multiplex"],"definition":"Die Sebokystomatose ist gekennzeichnet durch multiple (100 bis 2.000) asymptomatische Hautzysten, die meist im Bereich des Sternums, im oberen Anteil des Rückens, in den Axillen und an den proximalen Bereichen der Gliedmaßen auftreten."},"es":{"name":"Sebocistomatosis","synonyms":["Esteatocistoma múltiple"],"definition":"La sebocistomatosis se caracteriza por la presencia de quistes cutáneos asintomáticos múltiples (100 a 200) en, generalmente, la región esternal, la parte superior de la espalda, las axilas y la parte proximal de las extremidades."},"it":{"name":"Sebocistomatosi","synonyms":["Steatocistoma multiplo"]},"nl":{"name":"Sebocystomatose","synonyms":["Steatocystoma multiplex"],"definition":"Een aandoening, gekenmerkt door multipele (100 tot 2000) asymptomatische dermale cysten die meestal voorkomen ter hoogte van sternum, bovenste deel van rug, oksels, en proximale delen van extremiteiten."},"pt":{"name":"Sebocistomatose","definition":"A sebocistomatose é caracterizada por múltiplos (100 a 2000) quistos dérmicos assintomáticos que ocorrem normalmente na região do esterno, região superior das costas, axilas e nas zonas proximais das extremidades."},"pl":{"name":"Torbielowatość gruczołów łojowych","synonyms":["Mnogie torbiele łojowe"]},"cs":{"name":"Sebocystomatóza","synonyms":["Steatocystoma multiplex"]},"uk":{"name":"Себоцистоматоз","synonyms":["Стеатоцистома множинна"],"definition":"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities."},"zh":{"name":"皮脂囊肿病","synonyms":["多发性皮脂囊肿"]},"tr":{"name":"Sebokistomot","synonyms":["Steatocystoma multipleks"]}},"xrefs":[{"source":"OMIM","code":"184500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L72.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2F22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2085770731"},{"source":"MONDO","code":"0008485","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D062685","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0259771","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5003","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183460,"name":"Genetic sebaceous gland anomaly","classifications":[156]},{"orpha":79372,"name":"Sebaceous gland anomaly","classifications":[187]}],"children":[],"genes":[{"symbol":"KRT17","name":"keratin 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26165312[PMID]","hgnc":"6427","ensembl":"ENSG00000128422","omim":"148069","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"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:0009720","label":"Adenoma sebaceum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012035","label":"Steatocystoma multiplex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null}]}}