Phenotypes associated with the disease Hypothyroidism due to TSH receptor mutations (ORPHA:90673):
- Impaired sensitivity to thyroid stimulating hormone (HP:0011789): Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:90673)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90673)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90673)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90673)
- Elevated circulating thyroglobulin concentration (HP:0025484): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90673)
- Reduced radioactive iodine uptake (HP:0031219): A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90673)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90673)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Neonatal hyperbilirubinemia (HP:0003265): A type of hyperbilirubinemia with neonatal onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Delayed proximal femoral epiphyseal ossification (HP:0008828): Developmental delay of ossification of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Abnormal cry (HP:0025429): Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Increased radioactive iodine uptake (HP:0031220): An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90673)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90673)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90673)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90673)
Not associated with this disease:
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. (ORPHA:90673)
- Maternal autoimmune disease (HP:0011437): A medical history of a fetus or child born to a mother with an autoimmune disease. Evidence: TAS. (ORPHA:90673)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. (ORPHA:90673)