Phenotypes associated with the disease Chronic diarrhea due to glucoamylase deficiency (ORPHA:103907):
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:103907)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:103907)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:103907)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:103907)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:103907)
- Abnormal small intestinal mucosa morphology (HP:0025129): A structural anomaly of the mucous lining of the small intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:103907)
- Decreased small intestinal mucosa lactase level (HP:0025130): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:103907)
- Dyspepsia (HP:0410281): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:103907)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:103907)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:103907)