- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:412)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:412)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:412)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:412)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:412)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Corneal arcus (HP:0001084): A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Type IV atherosclerotic lesion (HP:0002635): In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Tendon xanthomatosis (HP:0010874): The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Xanthomas of the palmar creases (HP:0025530): The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Tuberous xanthoma (HP:0031290): A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:412)
- Renal steatosis (HP:0000799): Abnormal fat accumulation in the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Accelerated atherosclerosis (HP:0004943): Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Peripheral arterial stenosis (HP:0004950): Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
- Aortic atherosclerotic lesion (HP:0012397): The presence of atheromas or atherosclerotic plaques in the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:412)
These phenotypes are associated with the disease Dysbetalipoproteinemia (ORPHA:412).