{"orpha":3162,"name":"Sézary syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sézary lymphoma"],"definition":"Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3162/","orphanet_url":"https://www.orpha.net/en/disease/detail/3162","names":{"fr":{"name":"Syndrome de Sézary","synonyms":["Lymphome de Sézary"],"definition":"Le syndrome de Sézary (SS) est une forme agressive de lymphome T cutané caractérisé par la triade érythrodermie, lymphadénopathie et présence de lymphocytes atypiques circulants (cellules de Sézary)."},"de":{"name":"Sézary-Syndrom","synonyms":["Sézary-Lymphom"],"definition":"Das Sézary-Syndrom (SS) ist die aggressive Form eines kutanen T-Zell-Lymphoms und gekennzeichnet durch die Trias Erythrodermie, Lymphadenopathie und zirkulierende atypische Lymphozyten (Sézary -Zellen)."},"es":{"name":"Síndrome de Sezary","synonyms":["Linfoma de Sezary"],"definition":"El síndrome Sézary (SS) es una forma agresiva del linfoma cutáneo de células T, y se caracteriza por la triada de eritrodermia, linfadenopatía y linfocitos atípicos circulantes (células Sézary)."},"it":{"name":"Sindrome di Sézary","synonyms":["Linfoma di Sézary"],"definition":"La sindrome di Sézary (SS) è una forma aggressiva del linfoma cutaneo a cellule T, caratterizzata dalla triade eritroderma, linfadenopatia e linfociti atipici circolanti (cellule di Sézary)."},"nl":{"name":"Syndroom van Sézary","synonyms":["Sézary-lymfoom"],"definition":"Sezarysyndroom (SS) is een agressieve vorm van cutaan T-cellymfoom die wordt gekarakteriseerd door een triade van erytrodermie, lymfadenopathie en circulerende atypische lymfocyten (Sézary-cellen)."},"pt":{"name":"Síndrome Sezary","synonyms":["Linfoma de Sezary"]},"pl":{"name":"Zespół Sezary'ego","synonyms":["Chłoniak Sézary'ego"]},"cs":{"name":"Sézaryho syndrom","synonyms":["Sézaryho lymfom"]},"uk":{"name":"Синдром Сезарі","synonyms":["Лімфома Сезарі"],"definition":"Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells)."},"zh":{"name":"Súzary综合征","synonyms":["Sézary 淋巴瘤"]},"tr":{"name":"Sézary sendromu","synonyms":["Sézary lenfoma"]}},"xrefs":[{"source":"ICD-10","code":"C84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1358020385"},{"source":"MONDO","code":"0017844","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036920","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7629","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040493","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":178551,"name":"Aggressive primary cutaneous T-cell lymphoma","classifications":[187,194,202,233]}],"children":[],"genes":[{"symbol":"TNFRSF1B","name":"TNF receptor superfamily member 1B","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26258847[PMID]","hgnc":"11917","ensembl":"ENSG00000028137","omim":"191191","loci":["1p36.22"]},{"symbol":"CD28","name":"CD28 molecule","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"26258847[PMID]","hgnc":"1653","ensembl":"ENSG00000178562","omim":"186760","loci":["2q33.2"]},{"symbol":"CTLA4","name":"cytotoxic T-lymphocyte associated protein 4","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"26258847[PMID]","hgnc":"2505","ensembl":"ENSG00000163599","omim":"123890","loci":["2q33.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"United States","status":"Validated","source":"17638728[PMID]_National Cancer OTHERitute[OTHER]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Norway","status":"Validated","source":"18808419[PMID]_ ORPHANET_[EXPERT]"},{"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":"2024-09-20","source":"27704468[PMID]_30525758[PMID]_32017375[PMID]_37105561[PMID]_29763049[PMID]","terms":[{"hpo":"HP:0002843","label":"Abnormal T cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004332","label":"Abnormal lymphocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012192","label":"Cutaneous T-cell lymphoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033221","label":"Increased CD4:CD8 ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010701","label":"Abnormal immunoglobulin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025144","label":"Shivering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}