Phenotypes associated with the disease sitosterolemia 1 (OMIM:210250):
- Stomatocytosis (HP:0004446): The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: IEA. (OMIM:210250)
- 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: IEA. (OMIM:210250)
- Carotid artery stenosis (HP:0100546): Narrowing of the carotid arteries. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Hyperapobetalipoproteinemia (HP:0008158): Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. Evidence: IEA. (OMIM:210250)
- Giant platelets (HP:0001902): Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. (OMIM:210250)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: TAS. (OMIM:210250)
- 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: PCS. Frequency: 1/1. (PMID:25110228)
- Chronic hemolytic anemia (HP:0004870): An chronic form of hemolytic anemia. Evidence: IEA. (OMIM:210250)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Elevated circulating sitosterol concentration (HP:0033341): An increased concentration of beta-sitosterol in the blood circulation. Evidence: TAS. (OMIM:210250)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:210250)
- 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:11099417)
- Episodic hemolytic anemia (HP:0004802): A form of hemolytic anemia that occurs in repeated episodes. Evidence: IEA. (OMIM:210250)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:25110228)
- 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: IEA. (OMIM:210250)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: PCS. Frequency: 1/1. (PMID:25110228)