Phenotypes associated with the disease thyroid dyshormonogenesis 3 (OMIM:274700):
- Abnormal circulating thyroglobulin concentration (HP:0025483): Any deviation from the normal concentration of thyroglobulin in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:1752952)
- Decreased circulating T4 concentration (HP:0031507): A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 3/3. (PMID:16403815;PMID:1752952)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:16403815;PMID:1752952)
- Decreased circulating free T4 concentration (HP:0033078): A reduced concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 6/6. (PMID:16403815;PMID:16477365;PMID:1752952)
- Aspiration (HP:0002835): Inspiration of a foreign object into the airway. Evidence: PCS. Frequency: 1/1. (PMID:16403815)
- Follicular thyroid carcinoma (HP:0006731): The presence of an follicular adenocarcinoma of the thyroid gland. Evidence: PCS. Frequency: 1/4. (PMID:16403815;PMID:16477365;PMID:1752952)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:16403815)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:1752952)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. (OMIM:274700)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Multinodular goiter (HP:0005987): Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. Evidence: PCS. Frequency: 2/2. (PMID:16403815;PMID:1752952)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- 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:1752952)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 2/2. (PMID:16403815)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: PCS. Frequency: 0/1. (PMID:16477365)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. (OMIM:274700)
- Decreased circulating thyroglobulin concentration (HP:6000244): The concentration of thyroglobulin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:16403815)
- Increased circulating free T3 (HP:0011788): An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:16477365;PMID:1752952)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: PCS. Frequency: 0/1. (PMID:16477365)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Increased T3/T4 ratio (HP:0012559): A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. Evidence: TAS. (OMIM:274700)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: PCS. Frequency: 1/1. (PMID:16477365)
- Abnormal circulating thyroxine-binding globulin concentration (HP:0034590): Any deviation from the normal concentration of thyroxine-binding globulin in the blood circulation. Evidence: PCS. Frequency: 0/3. (PMID:1752952)
- 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:1752952)
- Compensated hypothyroidism (HP:0008223): Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). Evidence: TAS. (OMIM:274700)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:16403815;PMID:1752952)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 4/4. (PMID:16403815;PMID:1752952)
- Thyroid hyperplasia (HP:0008249): Hyperplasia of the thyroid gland. Evidence: PCS. Frequency: 2/2. (PMID:16403815)