Phenotypes associated with the disease GCGR-related hyperglucagonemia (OMIM:619290):
- Increased glucagon level (HP:0030688): An elevated concentration of glucagon in the blood circulation. Evidence: PCS. Frequency: 3/3. (PMID:25695890;PMID:19657311)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 1/1. (PMID:19657311)
- Recurrent pancreatitis (HP:0100027): A recurrent form of pancreatitis. Evidence: PCS. Frequency: 1/3. (PMID:25695890)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 4/4. (PMID:25695890;PMID:19657311)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:19657311)
- Pancreatic alpha-cell hyperplasia (HP:4000061): A diffuse and specific increase in the number of alpha-cells. Evidence: PCS. Frequency: 3/3. (PMID:25695890)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 1/1. (PMID:19657311)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. Frequency: 1/3. (PMID:25695890)
- 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: PCS. Frequency: 1/3. (PMID:25695890)