Phenotypes associated with the disease thyroid hormone metabolism, abnormal, 2 (OMIM:619855):
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/5. (PMID:32718224)
- Elevated circulating rT3/T3 ratio (HP:0034289): An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation. Evidence: PCS. Frequency: 8/8. (PMID:32718224)
- Elevated circulating reverse T3 concentration (HP:0034288): Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 8/8. (PMID:32718224)
- 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. (PMID:32718224)