{"orpha":2494,"name":"Ménétrier disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Giant hypertrophic gastritis","Hypoproteinemic hypertrophic gastropathy"],"definition":"Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2494/","orphanet_url":"https://www.orpha.net/en/disease/detail/2494","names":{"fr":{"name":"Maladie de Ménétrier","synonyms":["Gastrite hypertrophique avec hypoprotéinémie","Gastrite hypertrophique avec perte de protéines","Gastrite hypertrophique géante"],"definition":"Gastropathie hyperproliférative précancéreuse rare, caractérisée par une prolifération massive de cellules fovéolaires dans la muqueuse gastrique, entraînant un épaississement des plis gastriques. Elle se manifeste par des douleurs épigastriques, des nausées, des vomissements, un oedème périphérique et, moins fréquemment, par une anorexie et une perte de poids."},"de":{"name":"Ménétrier-Syndrom","synonyms":["Hypoproteinämische hypertrophe Gastropathie","Ménétrier-Krankheit","Riesenfaltengastritis"],"definition":"Die Ménétrier-Krankheit (MD) ist eine seltene prämaligne hyperproliferative Gastropathie, die durch ein massives Überwachsen der foveolären Zellen in der Magenschleimhaut gekennzeichnet ist, was zu großen Magenfalten führt und sich durch epigastrische Schmerzen, Übelkeit, Erbrechen, periphere Ödeme und, seltener, Anorexie und Gewichtsverlust manifestiert."},"es":{"name":"Enfermedad de Ménétrier","synonyms":["Gastropatía hipertrófica hipoproteinémica","Gastritis hipertrófica gigante"],"definition":"La enfermedad de Ménétrier (EM) es una gastropatía hiperproliferativa premaligna rara caracterizada por un crecimiento masivo de las células foveolares del revestimiento gástrico, que produce un engrosamiento de los pliegues gástricos. Se manifiesta con dolor epigástrico, nauseas, vómitos, edema periférico y, con menor frecuencia, anorexia y pérdida de peso."},"it":{"name":"Malattia di Menetrier","synonyms":["Gastrite ipertrofica gigante","Gastropatia ipertrofica ipoproteinemica"],"definition":"La malattia di Ménétrier (MD) è una gastropatia rara iperproliferativa precancerosa, caratterizzata da marcato iperaccrescimento delle cellule della fovea della mucosa gastrica, che esita nella formazione di ampie pliche gastriche. Esordisce con dolore epigastrico, nausea, vomito, edema periferico e, più raramente, anoressia e perdita di peso."},"nl":{"name":"Ziekte van Ménétrier","synonyms":["Gigantisch-hypertrofische gastritis","Hypoproteïnemische hypertrofische gastropathie","Reuze hypertrofische gastritis"],"definition":"Ziekte van Ménétrier (MD) is een zeldzame, premaligne, hyperproliferatieve gastropathie die gekarakteriseerd wordt door massale overgroei van foveolaire cellen in de maagwand met grote maagplooien tot gevolg, en die zich manifesteert met epigastrische pijn, misselijkheid, braken, perifeer oedeem en, minder gangbaar, anorexie en gewichtsverlies."},"pt":{"name":"Doença de Menetrier","synonyms":["Gastrite hipertrófica gigante"]},"pl":{"name":"Choroba Ménétrier","synonyms":["Olbrzymie przerostowe zapalenie żołądka","Gastropatia przerostowa z utratą białka"]},"cs":{"name":"Ménétrierova nemoc","synonyms":["Hypertrofická gastritida","Hypertrofická gastropatie"]},"uk":{"name":"Хвороба Меньєра","synonyms":["Гігантський гіпертрофічний гастрит","Гіпопротеїнемічна гіпертрофічна гастропатія"],"definition":"Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss."},"zh":{"name":"Menetrier病","synonyms":["低蛋白血症性肥厚性胃病"]},"tr":{"name":"Ménétrier hastalığı","synonyms":["Dev hipertrofik gastrit","Hipoproteinemik hipertrofik gastropati"]}},"xrefs":[{"source":"OMIM","code":"137280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K29.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA42.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1343994188"},{"source":"MONDO","code":"0007652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017155","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"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":"2019-04-04","source":"20926644[PMID]_23303980[PMID]_29027113[PMID]_24959292[PMID]_26689786[PMID]","terms":[{"hpo":"HP:0004295","label":"Abnormality of the gastric mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005246","label":"Giant hypertrophic gastritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005202","label":"Helicobacter pylori infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004394","label":"Multiple gastric polyps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Very rare (<4-1%)","criteria":null}]}}