Phenotypes associated with the disease GCGR-related hyperglucagonemia (ORPHA:438274):
- Increased glucagon level (HP:0030688): An elevated concentration of glucagon in the blood circulation. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:438274)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:438274)
- 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:438274)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:438274)
- Abnormal biliary tract morphology (HP:0012440): A structural abnormality of the biliary tree. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:438274)
- Glucagonoma (HP:0030404): An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:438274)
Not associated with this disease:
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. (ORPHA:438274)
- Zollinger-Ellison syndrome (HP:0002044): A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. Evidence: TAS. (ORPHA:438274)
- Stomatitis (HP:0010280): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: TAS. (ORPHA:438274)
- Necrolytic migratory erythema (HP:0031181): Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. Evidence: TAS. (ORPHA:438274)