{"Name":"Chronic diarrhea due to glucoamylase deficiency","DiseaseID__c":"GARD:0019838","id":19838,"encodedName":"chronic-diarrhea-due-to-glucoamylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Chronic diarrhea due to glucoamylase deficiency","Xref_IDs__c":"716277000; C4275068; MEDGEN:898614; MONDO:0015169; ORPHA:103907","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015169","Disease_Description__c":"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.","GARD_Name__c":"Chronic diarrhea due to glucoamylase deficiency","GARD_Synonym__c":"maltase glucoamylase deficiency; maltase-glucoamylase deficiency","Curated_Disease_Description_Source__c":"MONDO:0015169","Curated_Disease_Description__c":"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:103907","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015169","ORPHANET_ID__c":"ORPHA:103907","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea crónica por deficiencia de glucoamilasa","Spanish_Description_Source__c":"ORPHA:103907","Spanish_Description__c":"Es una enfermedad intestinal poco frecuente caracterizada por una absorción deficiente del almidón y de las cadenas cortas de polímeros de glucosa debido a una deficiencia primaria de glucoamilasa en el intestino delgado. Los pacientes se presentan en la lactancia o en la infancia temprana con diarrea crónica, distensión abdominal e hinchazón. Los niveles de amilasa pancreática suelen ser normales y el análisis histopatológico muestra una morfología normal de la mucosa intestinal.","Spanish_Disease_Name__c":"diarrea crónica por deficiencia de glucoamilasa","Spanish_GARD_Synonym__c":null,"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":"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.","Curated_Disease_Description_Source__c":"MONDO:0015169","GARD_Synonym__c":"maltase glucoamylase deficiency; maltase-glucoamylase deficiency","Name":"Chronic diarrhea due to glucoamylase deficiency","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:103907"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/103907","Source__c":"C4275068; MONDO:0015169; ORPHA:103907","Xref__c":"ORPHA:103907"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716277000","Source__c":"C4275068; MONDO:0015169","Xref__c":"716277000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275068","Source__c":"C4275068","Xref__c":"C4275068"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=898614","Source__c":"C4275068","Xref__c":"MEDGEN:898614"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015169","Source__c":"GARD:0019838","Xref__c":"MONDO:0015169"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410281","HPO_Synonym__c":"Indigestion","HPO_Name__c":"Dyspepsia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025130","HPO_Synonym__c":"Lactase deficiency","HPO_Name__c":"Decreased small intestinal mucosa lactase level","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the mucous lining of the small intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025129","HPO_Name__c":"Abnormal small intestinal mucosa morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:103907","HPO_Frequency__c":"Occasional (5-29%)","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:103907","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:103907","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:103907","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["maltase glucoamylase deficiency"," maltase-glucoamylase deficiency"]}