Phenotypes associated with the disease hypercholesterolemia, autosomal dominant, 3 (OMIM:603776):
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: Obligate (HP:0040280). (PMID:10205269)
- 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. (PMID:10205269)
- 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: PCS. (PMID:10205269)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: PCS. (PMID:10205269)
- Abnormal LDL cholesterol concentration (HP:0031886): Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. Evidence: IEA. (PMID:10357843)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. Frequency: Obligate (HP:0040280). (PMID:10205269)