Phenotypes associated with the disease hyperlipoproteinemia, type 1D (OMIM:615947):
- 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: 1/1. (PMID:19304573)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 3/3. (PMID:17883852;PMID:19304573)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- Decreased circulating LDL-C concentration (HP:0003563): The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- 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: 0/1. (PMID:19304573)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:615947)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- Premature coronary artery atherosclerosis (HP:0005181): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. Evidence: PCS. Frequency: 1/2. (PMID:17883852)
- 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: 3/3. (PMID:17883852;PMID:19304573)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 2/2. (PMID:17883852)
- Recurrent pancreatitis (HP:0100027): A recurrent form of pancreatitis. Evidence: PCS. Frequency: 2/2. (PMID:17883852)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- Hyperlipoproteinemia (HP:0010980): An abnormal increase in the level of lipoprotein cholesterol in the blood. Evidence: PCS. (PMID:17883852)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- 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:17883852)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:19304573)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 0/1. (PMID:19304573)