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Items: 6

1.

Thyrotoxic periodic paralysis, susceptibility to, 2

Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. [from MONDO]

MedGen UID:
413851
Concept ID:
C2750473
Finding
2.

Thyroid hormone metabolism, abnormal 1

Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018). Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism THMA2 (619855) is caused by mutation in the DIO1 gene (147892) on chromosome 1p32. THMA3 (620198) is caused by mutation in the TRU-TCA1-1 gene (165060) on chromosome 19q13. [from OMIM]

MedGen UID:
1801974
Concept ID:
C5676891
Finding
3.

Thyroid hormone resistance, generalized, autosomal recessive

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. [from MONDO]

MedGen UID:
483749
Concept ID:
C3489796
Disease or Syndrome
4.

Familial hyperthyroidism due to mutations in TSH receptor

A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. [from ORDO]

MedGen UID:
373154
Concept ID:
C1836706
Disease or Syndrome
5.

Familial gestational hyperthyroidism

Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997). [from OMIM]

MedGen UID:
355106
Concept ID:
C1863959
Disease or Syndrome
6.

Increased circulating T4 concentration

An elevation above 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). [from HPO]

MedGen UID:
1619052
Concept ID:
C4531079
Finding
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