{"orpha":2905,"name":"POEMS syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Crow-Fukase syndrome","Osteosclerotic myeloma","PEP syndrome","Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome","Takatsuki syndrome"],"definition":"POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2905/","orphanet_url":"https://www.orpha.net/en/disease/detail/2905","names":{"fr":{"name":"Syndrome POEMS","synonyms":["Myélome ostéosclérosant","Syndrome PEP","Syndrome de Crow-Fukase","Syndrome de Takatsuki","Syndrome de polyneuropathie-endocrinopathie-dyscrasie plasmocytaire"],"definition":"Syndrome paranéoplasique caractérisé par une neuropathie périphérique (P), une organomégalie (O), une endocrinopathie (E), une maladie plasmocytaire clonale (M) et des lésions cutanées (S). Les autres caractéristiques sont un oedème papillaire, une surcharge volémique extravasculaire, des lésions osseuses sclérosantes, une thrombocytose/érythrocytose et des taux élevés de VEGF."},"de":{"name":"POEMS-Syndrom","synonyms":["Crow-Fukase-Syndrom","Myelom, osteosklerotisches","Polyneuropathie - Endokrinopathie - Plasmazelldyskrasie (PEP)","Takatsuki-Syndrom"]},"es":{"name":"Síndrome de POEMS","synonyms":["Síndrome de Crow-Fukase"],"definition":"Es un síndrome paraneoplásico caracterizado por polirradiculoneuropatía (P), organomegalia (O), endocrinopatía (E), trastorno de proliferación clonal de células plasmáticas (M) y cambios cutáneos (S). Otros hallazgos adicionales incluyen papiledema, sobrecarga de volumen extravascular, lesiones óseas escleróticas, trombocitosis/eritrocitosis y niveles elevados de VEGF."},"it":{"name":"Sindrome POEMS","synonyms":["Mieloma osteosclerotico","Polineuropatia - endocrinopatia - discrasia delle cellule plasmatiche","Sindrome PEP","Sindrome di Crow-Fukase","Sindrome di Takatsuki"],"definition":"La sindrome POEMS è una malattia paraneoplastica caratterizzata da poliradiculoneuropatia, organomegalia, endocrinopatia, malattia clonale delle cellule plasmatiche e alterazioni della cute. Altri segni clinici sono il papilledema, il sovraccarico volemico extravascolare, le lesioni ossee sclerotiche, la trombocitosi/eritrocitosi e i livelli elevati di VEGF."},"nl":{"name":"POEMS-syndroom","synonyms":["Osteosclerotisch myeloom","PEP-syndroom","Polyneuropathie - endocrinopathie - plasmaceldyscrasie-syndroom","Syndroom van Crow-Fukase","Syndroom van Takatsuki"],"definition":"POEMS-syndroom is een paraneoplastisch syndroom dat gekarakteriseerd wordt door polyradiculoneuropathie (P), organomegalie (O), endocrinopathie (E), klonale plasmacelaandoening (M), en huidafwijkingen (S). Andere kenmerken zijn onder meer papiloedeem, extravasculaire overvulling, sclerotische botletsels, trombocytose/erytrocytose, en verhoogde VEGF-gehaltes."},"pt":{"name":"Síndrome POEMS","synonyms":["Mieloma osteosclerótico","Síndrome Crow-Fukase","Síndrome de polineuropatia-endocrinopatia-discrasia dos plasmócitos"]},"pl":{"name":"Zespół POEMS","synonyms":["Polineuropatia- endokrynopatia - dyskrazja komórek plazmatycznych","Szpiczak osteosklerotyczny","Zespół Crowa i Fukase'a","Zespół PEP","Zespół Takatsuki"]},"cs":{"name":"POEMS syndrom","synonyms":["Osteosklerotický myelom","PEP syndrom","Takatsukiho syndrom","Crowův-Fukaseův syndrom","Syndrom zahrnující polyneuropatii, endokrinopatii a dyskrazii plazmatických buněk","Crow-Fukaseův syndrom"]},"uk":{"name":"Синдром POEMS","synonyms":["Синдром Кроу-Фукаса","Остеосклеротична мієлома","PEP-синдром","Синдром полінейропатії-ендокринопатії-плазмоклітинної дискразії","Синдром Такацукі"],"definition":"POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels."},"zh":{"name":"POEMS综合征","synonyms":["多发性神经病-内分泌病-浆细胞恶液质综合征"]},"tr":{"name":"POEMS sendromu","synonyms":["PEP sendromu","Takatsuki sendromu","Crow-Fukase sendromu","Osteosklerotik miyelom","Polinöropati-endokrinopati-plazma hücreli diskrazi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A83.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1555299114"},{"source":"MONDO","code":"0017364","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016878","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085404","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7411","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":208974,"name":"Chronic acquired demyelinating polyneuropathy","classifications":[181]},{"orpha":209016,"name":"Hematological disease associated with an acquired peripheral neuropathy","classifications":[181]},{"orpha":209010,"name":"Peripheral neuropathy associated with monoclonal gammopathy","classifications":[181]},{"orpha":98282,"name":"Plasma cell tumor","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Japan","status":"Validated","source":"22338030[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-10","source":"27208909[PMID]_24532337[PMID]_28589896[PMID]_7985714[PMID]","terms":[{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011122","label":"Abnormality of skin physiology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005523","label":"Lymphoproliferative disorder","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003271","label":"Visceromegaly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031052","label":"Elevated vascular endothelial growth factor level","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001820","label":"Leukonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004979","label":"Metaphyseal sclerosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100925","label":"Sclerosis of foot bone","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004054","label":"Sclerosis of hand bone","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002694","label":"Sclerosis of skull base","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004576","label":"Sclerotic vertebral endplates","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031357","label":"Glomeruloid hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001050","label":"Plethora","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}