Phenotypes associated with the disease familial apolipoprotein C-II deficiency (OMIM:207750):
- Lipemia retinalis (HP:0000660): A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. Evidence: PCS. Frequency: 1/2. (PMID:12783430)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 12/12. (PMID:12783430;PMID:213719)
- Eruptive xanthomas (HP:0001013): Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. Evidence: PCS. Frequency: 1/10. (PMID:213719;PMID:3944267)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:12783430)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 4/6. (PMID:12783430;PMID:213719;PMID:3944267)
- Decreased circulating apolipoprotein C-II concentration (HP:0033983): The concentration of apolipoprotein C-II in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 11/11. (PMID:213719;PMID:6547689;PMID:3944267)
- 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:12783430)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 5/8. (PMID:213719)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:3944267)
- Increased circulating chylomicron concentration (HP:0012238): Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. Evidence: PCS. Frequency: 10/10. (PMID:213719)