Phenotypes associated with the disease familial lipoprotein lipase deficiency (OMIM:238600):
- 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: IEA. (OMIM:238600)
- 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: 1/1. (PMID:16174715)
- 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. (OMIM:238600)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: IEA. (OMIM:238600)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:16174715)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: IEA. (OMIM:238600)
- Lactescent serum (HP:0031028): Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. Evidence: PCS. Frequency: 1/1. (PMID:16174715)
- 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: TAS. (OMIM:238600)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:16174715)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: PCS. Frequency: 1/1. (PMID:16174715)
- 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:16174715)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. (OMIM:238600)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: IEA. (OMIM:238600)
- Precocious atherosclerosis (HP:0004416). Evidence: PCS. Frequency: 0/1. (PMID:16174715)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:238600)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:238600)