{"orpha":54028,"name":"Plummer-Vinson syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kelly-Paterson syndrome","Sideropenic dysphagia"],"definition":"A rare hematological disorder characterized by the classic triad of iron-deficiency anemia, dysphagia, and esophageal webs. It predominantly affects Caucasian women aged 40-70&nbsp;years, although pediatric cases have been reported. Dysphagia is usually painless, intermittent or progressive over several years, and limited to solids; it is sometimes associated with weight loss, while anemia-related symptoms such as fatigue and pallor may predominate. Additional signs include glossitis, angular cheilitis, and koilonychia. Splenomegaly and thyroid enlargement may occur. Iron deficiency is considered a major potential etiological factor. The syndrome is associated with an increased risk of developing squamous cell carcinoma of the upper gastrointestinal tract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54028/","orphanet_url":"https://www.orpha.net/en/disease/detail/54028","names":{"fr":{"name":"Syndrome de Plummer-Vinson","synonyms":["Dysphagie sidéropénique","Syndrome de Kelly-Paterson"],"definition":"Maladie hématologique rare caractérisée par la triade classique associant une anémie ferriprive, une dysphagie et des membranes oesophagiennes. Elle touche principalement les femmes de type caucasien âgées de 40 à 70&nbsp;ans, bien que des cas pédiatriques aient été rapportés. La dysphagie est généralement indolore, intermittente ou progressive sur plusieurs années, et limitée aux aliments solides&nbsp;; elle s'accompagne parfois d'une perte de poids, tandis que les symptômes liés à l'anémie, tels que la fatigue et la pâleur, peuvent être prédominants. D'autres signes incluent une glossite, une chéilite angulaire et une koïlonychie. Une splénomégalie et une hypertrophie thyroïdienne peuvent s'observer. La carence en fer est considérée comme un facteur étiologique potentiel majeur. Le syndrome est associé à un risque accru de développer un carcinome épidermoïde du tractus gastro-intestinal supérieur."},"de":{"name":"Plummer-Vinson-Syndrom","synonyms":["Dysphagie, sideropenische","Kelly-Paterson-Syndrom"],"definition":"Das Plummer-Vinson- oder Patterson-Kelly-Syndrom ist charakterisiert als die klassische Trias aus Dysphagie, Eisenmangel-Anämie und Atrophie der Ösophagus-Schleimhaut mit Ösophagusnetz."},"es":{"name":"Síndrome de Plummer-Vinson","synonyms":["Disfagia sideropénica","Síndrome de Kelly-Paterson"],"definition":"El síndrome de Plummer-Vinson o de Paterson-Kelly se presenta mediante la clásica triada de disfagia, anemia por deficiencia de hierro y membranas esofágicas."},"it":{"name":"Sindrome di Plummer-Vinson","synonyms":["Disfagia sideropenica","Sindrome di Kelly-Paterson"]},"nl":{"name":"Syndroom van Plummer-Vinson","synonyms":["Sideropenische dysfagie","Syndroom van Kelly-Paterson"],"definition":"Een syndroom, gekenmerkt door de triade van dysfagie, anemie door ijzertekort, en oesofagusweb."},"pt":{"name":"Síndrome Plummer-Vinson","synonyms":["Disfagia sideropénica","Síndrome Kelly-Paterson"]},"pl":{"name":"Zespół plummera i Vinsona","synonyms":["Dysfagia syderopeniczna","Zespół Kelly'ego i Patersona"]},"cs":{"name":"Plummerův-Vinsonův syndrom","synonyms":["Sideropenická dysfagie","Patersonův -Brown-Kellyho syndrom","Plummer-Vinsonův syndrom","Paterson -Brown-Kellyho syndrom"]},"uk":{"name":"Синдром Пламмера-Вінсона","synonyms":["Синдром Келлі-Патерсона","Сидеропенічна дисфагія"],"definition":"Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs."},"zh":{"name":"Plummer-Vinson综合征","synonyms":["Kelly-Paterson综合征"]},"tr":{"name":"Plummer-Vinson sendromu","synonyms":["Sideropenik disfaji","Kelly-Paterson sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D50.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1568337509"},{"source":"MONDO","code":"0018895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032249","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8259","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248302,"name":"Rare acquired deficiency anemia","classifications":[194]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-15","source":"26944249[PMID]_25878483[PMID]_26620961[PMID]","terms":[{"hpo":"HP:0012343","label":"Decreased serum ferritin","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100594","label":"Esophageal web","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001598","label":"Concave nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025062","label":"Geophagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010284","label":"Intra-oral hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}