Phenotypes associated with the disease thyroid hormone metabolism, abnormal, 3 (OMIM:620198):
- Abnormal circulating free T3 concentration (HP:0032209): A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. Evidence: PCS. Frequency: 0/1. (PMID:26854926)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:34956927)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: PCS. Frequency: 1/1. (PMID:26854926)
- Increased circulating free T3 (HP:0011788): An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:34956927)
- Abnormal circulating free T4 concentration (HP:0033076): A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. Evidence: PCS. Frequency: 1/1. (PMID:34956927)
- Increased circulating free T4 concentration (HP:0033077): An elevated concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:26854926)
- Abnormal circulating thyroid-stimulating hormone concentration (HP:0031097): Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. Evidence: PCS. Frequency: 0/2. (PMID:34956927;PMID:26854926)
- 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: 2/2. (PMID:26854926;PMID:34956927)
- 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:26854926)
- Euthyroid hyperthyroxinemia (HP:0008247): Increased levels of thyroxine without evidence of clinical thyroid disease. Evidence: PCS. Frequency: 1/1. (PMID:34956927)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:26854926)
- Decreased circulating selenium concentration (HP:0033192): An abnormally reduced concentration of selenium in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:26854926)
- 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: PCS. Frequency: 1/1. (PMID:26854926)