{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PHTS"],"definition":"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306498/","orphanet_url":"https://www.orpha.net/en/disease/detail/306498","names":{"fr":{"name":"Syndrome tumoral hamartomateux associé à PTEN","synonyms":["PHTS","PTHS"],"definition":"Groupe de tumeurs cutanées rares ou maladies hamartomateuses caractérisées par une mutation germinale du gène <i>PTEN</i> et des manifestations cliniques d'hamartomes, de croissance excessive et de risque accru de néoplasie, notamment de carcinomes du sein, de carcinomes épithéliaux de la thyroïde, de carcinomes de l'endomètre, de carcinomes rénaux et de carcinomes colorectaux. Les manifestations non malignes sont une macrocéphalie, une pathologie thyroïdienne bénigne (en particulier la thyroïdite de Hashimoto), des hamartomes cutanéo-muqueux, des polypes coliques et des malformations vasculaires. Les maladies de ce groupe comprennent le syndrome de Cowden, le syndrome de Bannayan-Riley-Ruvalcaba, le syndrome de Proteus, la maladie de Lhermitte-Duclos et le syndrome de lipomatose segmentaire, malformation artérioveineuse et naevus épidermique."},"de":{"name":"PTEN-Hamartom-Tumorsyndrom","synonyms":["PHTS"],"definition":"Eine Gruppe seltener Hauttumor- oder Hamartom-Erkrankungen, die durch eine PTEN-Keimbahnmutation und klinische Manifestationen von Hamartomen, Überwuchs und ein erhöhtes Neoplasierisiko gekennzeichnet sind, insbesondere Brustkarzinome, epitheliale Schilddrüsenkarzinome, Endometriumkarzinome, Nierenzellkarzinome und kolorektale Karzinome. Zu den nicht-malignen Manifestationen gehören Makrozephalie, gutartige Schilddrüsenerkrankungen (insbesondere Hashimoto-Thyreoiditis), mukokutane Hamartome, Kolonpolypen und vaskuläre Fehlbildungen. Unterformen des PTEN-Hamartom-Tumor-Syndroms (PHTS) sind das Cowden-Syndrom, das Bannayan-Riley-Ruvalcaba-Syndrom, das Proteus-ähnliche Syndrom, die Lhermitte-Duclos-Krankheit und das SOLAMEN-Syndrom."},"es":{"name":"Síndrome de tumor hamartoma asociado al gen PTEN","synonyms":["PHTS"],"definition":"Es un grupo poco frecuente de tumores cutáneos o enfermedades hamartomatosas caracterizado por una mutación en la línea germinal del gen <i>PTEN</i> y por manifestaciones clínicas de hamartomas, sobrecrecimiento y riesgo incrementado de neoplasias, especialmente carcinomas de mama, carcinomas epiteliales de tiroides, carcinomas de endometrio, carcinomas de células renales y carcinomas colorrectales. Las manifestaciones no malignas incluyen macrocefalia, patología tiroidea benigna (especialmente tiroiditis de Hashimoto), hamartomas mucocutáneos, pólipos colónicos y malformaciones vasculares. Las enfermedades de este grupo incluyen el síndrome de Cowden, el síndrome de Bannayan-Riley-Ruvalcaba, el síndrome de Proteus-like, la enfermedad de Lhermitte-Duclos y el síndrome de excrecencia segmentaria-lipomatosis-malformación arteriovenosa-nevo epidérmico."},"it":{"name":"Sindrome tumorale amartomatosa legata a PTEN","synonyms":["PHTS"],"definition":"La sindrome tumorale amartomatosa legata a PTEN (PHTS) definisce un gruppo di malattie clinicamente eterogenee, che condividono una mutazione della linea germinale di <i>PTEN</i> e interessano i derivati di tutti e tre gli strati delle cellule germinali, provocando amartomi, iperaccrescimento e neoplasie. Attualmente, rientrano nella PHTS i soggetti con diagnosi clinica di sindrome di Cowden, sindrome di Bannayan-Riley-Ruvalcaba, sindrome Proteus e Proteus-simile e sindrome SOLAMEN (si vedano questi termini)."},"nl":{"name":"PTEN-hamartoom-tumorsyndroom","synonyms":["PHTS"],"definition":"Een groep van zeldzame huidtumoren of hamartomen, gekarakteriseerd door een kiembaanmutatie in <i>PTEN</i> en klinische manifestaties van hamartomen, overgroei, en verhoogd risico op neoplasie, vooral carcinomen van borst, epitheliale carcinomen van schildklier, carcinomen van endometrium, niercelcarcinomen, en colorectaal carcinoom. Niet-maligne manifestaties zijn onder meer macrocefalie, goedaardige aandoeningen van schildklier (vooral Hashimoto-thyreoïditis), mucocutane hamartomen, poliepen van colon, en vasculaire malformaties. Ziekten in deze groep zijn onder meer syndroom van Cowden, syndroom van Bannayan-Riley-Ruvalcaba, Proteus-achtig syndroom, ziekte van Lhermitte-Duclos, en syndroom van segmentale overgroei - lipomatose - arterioveneuze malformatie - epidermale naevus."},"pt":{"name":"Síndrome do hamartoma PTEN"},"pl":{"name":"Zespół guzów hamartomatycznych związanych z mutacjami PTEN","synonyms":["PHTS"]},"cs":{"name":"Syndrom PTEN asociovaných hamartomů","synonyms":["PHTS"]},"uk":{"name":"Синдром пухлинної гамартоми PTEN","synonyms":["PHTS"],"definition":"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome."},"zh":{"name":"PTEN错构瘤肿瘤综合征","synonyms":["PTEN错构瘤肿瘤综合征"],"definition":"PTEN错构瘤综合征（PHTS）是一组临床表现异质性疾病，由PTEN基因突变和所有3个生殖细胞层的衍生物参与，表现为错构瘤、过度生长和肿瘤形成。目前，临床诊断的亚型有Cowden综合征、Bannayan-Riley-Ruvalcaba综合征、变形杆菌和变形杆菌样综合征以及Solaman综合征（见这些术语）。"},"tr":{"name":"PTEN hamartom tümör sendromu","synonyms":["PHTS"]}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"892873372"},{"source":"MONDO","code":"0017623","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1959582","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":717877,"name":"Rare miscellaneous disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[{"orpha":109,"name":"Bannayan-Riley-Ruvalcaba syndrome","type":"Clinical subtype"},{"orpha":201,"name":"Cowden syndrome","type":"Clinical subtype"},{"orpha":65285,"name":"Lhermitte-Duclos disease","type":"Clinical subtype"},{"orpha":2969,"name":"Proteus-like syndrome","type":"Clinical subtype"},{"orpha":137608,"name":"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":201,"name":"Cowden syndrome"}},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"14566704[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":65285,"name":"Lhermitte-Duclos disease"}},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301661[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":109,"name":"Bannayan-Riley-Ruvalcaba syndrome"}},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10749983[PMID]_20301661[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":2969,"name":"Proteus-like syndrome"}},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17392703[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":137608,"name":"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Worldwide","status":"Validated","source":"40231587[PMID]_ORPHANET"}],"phenotypes":null}