{"Name":"Gastric mucosal hypertrophy","DiseaseID__c":"GARD:0002436","id":2436,"encodedName":"gastric-mucosal-hypertrophy","IsDeleted":false,"Disease_Name_Full__c":"Gastric mucosal hypertrophy","Xref_IDs__c":"60002000; C0017155; C67277; D005758; DOID:8757; MEDGEN:4844; MONDO:0007652; OMIM:137280; ORPHA:2494","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007652","Disease_Description__c":"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.","GARD_Name__c":"Gastric mucosal hypertrophy","GARD_Synonym__c":"adenopapillomatosis gastrica; chronic hypertrophic gastritis; familial giant hypertrophic gastritis; gastric hyperplasia; gastric mucosal hyperplasia; gastritis hypertrophic gigantica; gastritis hypertrophica gigantea; gastritis hypertrophica gigantica; gastritis, familial giant hypertrophic; gastritis, hypertrophic; giant hypertrophic gastritis; giant rugal gastritis; giant rugal hypertrophy; giant rugal hypertrophy of stomach; hyperplastic gastropathy; hyperplastic gastropathy of mucous cell type; hypertrophic bulbous gastritis; hypertrophic gastritis; hypertrophic gastropathy; hypertrophic proliferative gastritis; hypoproteinemic hypertrophic gastropathy; massive hypertrophic gastritis; menetrier disease; menetrier's disease; ménétrier disease; ménétrier's disease; polypoid swelling of gastric mucous membrane; proliferative chronic hypertrophic gastritis","Curated_Disease_Description_Source__c":"GARD:0002436","Curated_Disease_Description__c":"Menetrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds. This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid. Symptoms may include pain in the upper middle region of the stomach, nausea, vomiting, and diarrhea. The cause of Menetrier disease is largely not known, although some cases are associated with infection, particularly pediatric cases, which can be caused by CMV infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2494","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007652","ORPHANET_ID__c":"ORPHA:2494","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de ménétrier","Spanish_Description_Source__c":"ORPHA:2494","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"enfermedad de ménétrier","Spanish_GARD_Synonym__c":"gastritis hipertrófica gigante; gastropatía hipertrófica hipoproteinémica","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Menetrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds. This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid. Symptoms may include pain in the upper middle region of the stomach, nausea, vomiting, and diarrhea. The cause of Menetrier disease is largely not known, although some cases are associated with infection, particularly pediatric cases, which can be caused by CMV infections.","Curated_Disease_Description_Source__c":"GARD:0002436","GARD_Synonym__c":"adenopapillomatosis gastrica; chronic hypertrophic gastritis; familial giant hypertrophic gastritis; gastric hyperplasia; gastric mucosal hyperplasia; gastritis hypertrophic gigantica; gastritis hypertrophica gigantea; gastritis hypertrophica gigantica; gastritis, familial giant hypertrophic; gastritis, hypertrophic; giant hypertrophic gastritis; giant rugal gastritis; giant rugal hypertrophy; giant rugal hypertrophy of stomach; hyperplastic gastropathy; hyperplastic gastropathy of mucous cell type; hypertrophic bulbous gastritis; hypertrophic gastritis; hypertrophic gastropathy; hypertrophic proliferative gastritis; hypoproteinemic hypertrophic gastropathy; massive hypertrophic gastritis; menetrier disease; menetrier's disease; ménétrier disease; ménétrier's disease; polypoid swelling of gastric mucous membrane; proliferative chronic hypertrophic gastritis","Name":"Gastric mucosal hypertrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2494"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2494"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2494"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4844","Source__c":"C0017155","Xref__c":"MEDGEN:4844"},{"URL__c":"https://www.orpha.net/en/disease/detail/2494","Source__c":"C0017155; MONDO:0007652; ORPHA:2494","Xref__c":"ORPHA:2494"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005758","Source__c":"C0017155; MONDO:0007652","Xref__c":"D005758"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C67277","Source__c":"C0017155; MONDO:0007652","Xref__c":"C67277"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017155","Source__c":"C0017155","Xref__c":"C0017155"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60002000","Source__c":"C0017155; MONDO:0007652","Xref__c":"60002000"},{"URL__c":"https://www.omim.org/entry/137280","Source__c":"MONDO:0007652; ORPHA:2494","Xref__c":"OMIM:137280"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8757","Source__c":"MONDO:0007652","Xref__c":"DOID:8757"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=413219009","Source__c":"C0017155","Xref__c":"413219009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005246","Source__c":"C0017155","Xref__c":"HP:0005246"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007652","Source__c":"GARD:0002436","Xref__c":"MONDO:0007652"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer arising in any part of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012126","HPO_Synonym__c":"Gastric cancer","HPO_Name__c":"Stomach cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004840","HPO_Synonym__c":"Hypochromic, microcytic anemia","HPO_Name__c":"Hypochromic microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005246","HPO_Name__c":"Giant hypertrophic gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004394","HPO_Name__c":"Multiple gastric polyps","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005202","HPO_Name__c":"Helicobacter pylori infection","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003075","HPO_Synonym__c":"Decreased protein levels in blood","HPO_Name__c":"Hypoproteinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012398","HPO_Name__c":"Peripheral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025406","HPO_Synonym__c":"Lack of energy and strength; Weakness","HPO_Name__c":"Asthenia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004295","HPO_Synonym__c":"Abnormality of the gastric mucosa; Abnormality of the mucous membrane layer of stomach","HPO_Name__c":"Abnormal gastric mucosa morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2494","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":["adenopapillomatosis gastrica"," chronic hypertrophic gastritis"," familial giant hypertrophic gastritis"," gastric hyperplasia"," gastric mucosal hyperplasia"," gastritis hypertrophic gigantica"," gastritis hypertrophica gigantea"," gastritis hypertrophica gigantica"," gastritis, familial giant hypertrophic"," gastritis, hypertrophic"," giant hypertrophic gastritis"," giant rugal gastritis"," giant rugal hypertrophy"," giant rugal hypertrophy of stomach"," hyperplastic gastropathy"," hyperplastic gastropathy of mucous cell type"," hypertrophic bulbous gastritis"," hypertrophic gastritis"," hypertrophic gastropathy"," hypertrophic proliferative gastritis"," hypoproteinemic hypertrophic gastropathy"," massive hypertrophic gastritis"," menetrier disease"," menetrier's disease"," ménétrier disease"," ménétrier's disease"," polypoid swelling of gastric mucous membrane"," proliferative chronic hypertrophic gastritis"]}