{"orpha":201,"name":"Cowden syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cowden disease","Multiple hamartoma syndrome"],"definition":"A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-201/","orphanet_url":"https://www.orpha.net/en/disease/detail/201","names":{"fr":{"name":"Syndrome de Cowden","synonyms":["Maladie de Cowden","Syndrome des hamartomes multiples"],"definition":"Génodermatose caractérisée par des hamartomes multiples se formant dans divers tissus et par un risque accru de développement de tumeurs malignes du sein, de la thyroïde, de l'endomètre, du rein et du colorectum. Lorsque le CS est accompagné de mutations germinales du gène <i>PTEN</i>, il appartient au groupe du syndrome tumoral hamartomateux lié à PTEN (STHP)."},"de":{"name":"Cowden-Syndrom","synonyms":["Cowden-Krankheit","Multiples Hamartom-Syndrom"],"definition":"Eine Genodermatose, die durch das Vorhandensein multipler Hamartome in verschiedenen Geweben und ein erhöhtes Risiko für maligne Erkrankungen der Brust, der Schilddrüse, des Endometriums, der Niere und des Kolorektums gekennzeichnet ist. Wenn CS von Keimbahn-<i>PTEN</i>-Mutationen begleitet wird, gehört es zur Gruppe der PTEN-Hamartom-Tumor-Syndrome (PHTS)."},"es":{"name":"Síndrome de Cowden","synonyms":["Enfermedad de Cowden","Síndrome de hamartoma múltiple"],"definition":"Es una genodermatosis caracterizada por la presencia de múltiples hamartomas en diversos tejidos y un mayor riesgo de desarrollar neoplasias malignas mamarias, tiroideas, endometriales, renales y colorrectales. Cuando el síndrome va acompañado por mutaciones de la línea germinal en el gen <i>PTEN</i>, pertenece al grupo del síndrome de tumor hamartoma asociado al gen PTEN (STHP)."},"it":{"name":"Sindrome di Cowden","synonyms":["Malattia di Cowden","Sindrome da amartomi multipli"],"definition":"La sindrome di Cowden (CS) è una genodermatosi caratterizzata da amartomi multipli in diversi tessuti e da un rischio aumentato di tumori maligni della mammella, della tiroide, dell'endometrio, del rene e del colon-retto. Se la CS si associa a mutazioni nella linea germinale di PTEN, appartiene al gruppo delle sindromi tumorali amartomatose correlate a PTEN (PHTS)."},"nl":{"name":"Syndroom van Cowden","synonyms":["Multipele hamartomen-syndroom","Ziekte van Cowden"],"definition":"Een genodermatose, gekarakteriseerd door aanwezigheid van multipele hamartomen in verschillende weefsels en een verhoogd risico op maligniteiten van borst, schildklier, endometrium, nier en colorectum. Wanneer de ziekte gepaard gaat met kiembaanmutaties in <i>PTEN</i>, behoort het tot de PTEN-hamartoom-tumorsyndroom (PHTS)-groep."},"pt":{"name":"Síndrome Cowden","synonyms":["Síndrome de hamartoma múltiplo"]},"pl":{"name":"Zespół Cowdena","synonyms":["Choroba Cowdena","Zespół mnogich zmian typu hamartoma"],"definition":"Genodermatoza charakteryzująca się obecnością licznych guzów hamartomatycznych w różnych tkankach i zwiększonym ryzykiem nowotworów piersi, tarczycy, endometrium, nerek i jelita grubego. Gdy w zespole Cowdena stwierdza się mutacje germinalne PTEN, wówczas należy on do PTEN-zależnego zespołu guzów hamartomatycznych."},"cs":{"name":"Cowdenův syndrom","synonyms":["Cowdenova nemoc","Syndrom mnohočetných hamartomů"]},"uk":{"name":"Синдром Коудена","synonyms":["Хвороба Коудена","Синдром множинної гамартоми"],"definition":"A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group."},"zh":{"name":"Cowden综合征","synonyms":["多发性错构瘤综合征"]},"tr":{"name":"Cowden sendromu","synonyms":["Cowden hastalığı","Çoklu hamartom sendromu"]}},"xrefs":[{"source":"OMIM","code":"158350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615107","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615108","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615109","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616858","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2020168794"},{"source":"MONDO","code":"0016063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006223","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051906","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271835,"name":"Genetic digestive tract tumor","classifications":[156]},{"orpha":589746,"name":"Inherited gynecological cancer-predisposing syndrome","classifications":[156,202]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","classifications":[147,152,156,187,202,233]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Netherlands","status":"Validated","source":"10234502[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"10234502[PMID]_35422633[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100780","label":"Conjunctival hamartoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005595","label":"Generalized hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006731","label":"Follicular thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100031","label":"Neoplasm of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}