Phenotypes associated with the disease chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase (OMIM:118830):
- Recurrent pancreatitis (HP:0100027): A recurrent form of pancreatitis. Evidence: TAS. (OMIM:118830)
- Hyperlipoproteinemia (HP:0010980): An abnormal increase in the level of lipoprotein cholesterol in the blood. Evidence: TAS. (OMIM:118830)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:118830)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:118830)
- 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. (OMIM:118830)