{"orpha":85112,"name":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"],"definition":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85112/","orphanet_url":"https://www.orpha.net/en/disease/detail/85112","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire","synonyms":["Syndrome d'hyperkératose palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire"],"definition":"Le syndrome de kératodermie palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire est caractérisé par une ambiguïté sexuelle chez des hommes 46,XX (SRY-négatif), avec une hyperkératose palmoplantaire et une prédisposition aux carcinomes spino-cellulaires. A ce jour, cinq cas (dont quatre frères) ont été décrits. L'étiologie est inconnue."},"de":{"name":"Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Geschlechtsumkehr (sex reversal) bei SRY-negativen Männern mit dem Karyotyp 46, XX, durch palmo-plantare Hyperkeratose und eine Prädisposition zur Entwicklung von Plattenepithel-Karzinomen."},"es":{"name":"Síndrome de queratodermia palmoplantar-reversión sexual XX-predisposición a carcinoma de células escamosas","synonyms":["Hiperqueratosis palmoplantar-cambio de sexo XX-predisposición a carcinoma de células escamosas"],"definition":"Es un síndrome caracterizado por reversión del sexo en varones con un cariotipo 46, XX (SRY-negativo), hiperqueratosis palmoplantar y predisposición al carcinoma de células escamosas. Hasta la fecha se han descrito cinco casos (cuatro de los cuales eran hermanos). La etiología es desconocida."},"it":{"name":"Cheratoderma palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose","synonyms":["Ipercheratosi palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose"]},"nl":{"name":"Palmoplantaire keratodermie - XX-geslachtsomkering - predispositie voor plaveiselcelcarcinoom-syndroom","synonyms":["Palmoplantaire hyperkeratose - XX-geslachtsomkering - predispositie voor plaveiselcelcarcinoom-syndroom"],"definition":"Palmoplantaire keratodermie - XX-geslachtsomkering - predispositie voor plaveiselcelcarcinoom-syndroom wordt gekenmerkt door geslachtsomkering bij mannen met karyotype 46,XX (SRY-negatief), palmoplantaire hyperkeratose, en predispositie voor plaveiselcelcarcinoom. Tot op heden werden vijf gevallen (waarvan vier broers) beschreven. De etiologie is niet gekend."},"pt":{"name":"Síndrome de queratodermia palmoplantar-reversão sexual XX-predisposição a carcinoma de células escamosas"},"pl":{"name":"Rogowiec dłoni i stóp - odwrócenie płci XX - predyspozycja do raka kolczystokomórkowego","synonyms":["Hiperkeratoza dłoni i stóp - odwrócenie płci XX - predyspozycja do raka kolczystokomórkowego"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratoderma, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu","synonyms":["Syndrom zahrnující palmoplantární hyperkeratózu, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu"]},"uk":{"name":"Синдром долонно-підошовної кератодермії-XX зміни статі-схильності до плоскоклітинного раку","synonyms":["Синдром долонно-підошовного гіперкератозу - ХХ зміни статі - схильності до плоскоклітинного раку"],"definition":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown."},"zh":{"name":"掌跖角化病-XX性别逆转-鳞状细胞癌易感综合征","synonyms":["掌跖角化过度-XX性别逆转-鳞状细胞癌易感综合征"]},"tr":{"name":"Palmoplantar keratoderma-XX cinsiyet değiştirme-skuamöz hücreli karsinom sendromuna yatkınlık","synonyms":["Palmoplantar hiperkeratoz-XX cinsiyet tersine çevrilmesi-skuamöz hücreli karsinom sendromuna yatkınlık"]}},"xrefs":[{"source":"OMIM","code":"610644","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012530","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302748","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"RSPO1","name":"R-spondin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17041600[PMID]","hgnc":"21679","ensembl":"ENSG00000169218","omim":"609595","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"16227098[PMID]_10733237[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16227098[PMID]_10733237[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012245","label":"Sex reversal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Very frequent (99-80%)","criteria":null}]}}