Hyperthyroxinemia, familial dysalbuminemic- MedGen UID:
- 90974
- •Concept ID:
- C0342185
- •
- Disease or Syndrome
Familial dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. FDAH is the most commonly inherited euthyroid hyperthyroxinemia in Caucasian populations with an estimated prevalence of 1 in 10,000 individuals. The condition does not cause disease since the concentration of free hormone is normal, but affected individuals may be at risk for unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995 and Kragh-Hansen et al., 2017).
Graves disease, susceptibility to, 1- MedGen UID:
- 341307
- •Concept ID:
- C1848795
- •
- Finding
Graves disease (GRD) is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity.
Genetic Heterogeneity of Graves Disease
Susceptibility to Graves disease-1 (GRD1) has been mapped to chromosome 14q31. Other susceptibility loci for Graves disease include GRD2 (603388) on chromosome 20q13, GRDX1 (300351) on Xp11, and GRDX2 (see 300351) on Xq21.33-q22.
Graves disease has also been mapped to several loci that confer susceptibility to autoimmune thyroid diseases, including Hashimoto thyroiditis (HT; 140300): AITD1 (608173) on 6p11; AITD2 (608174) on 5q31-q33; AITD3 (608175) on 8q24; AITD4 (608176) on 10q, and AITD5 (601941) on 18q21.
Thyrotoxic periodic paralysis, susceptibility to, 2- MedGen UID:
- 413851
- •Concept ID:
- C2750473
- •
- Finding
Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
Thyroid hormone resistance, generalized, autosomal dominant- MedGen UID:
- 424846
- •Concept ID:
- C2937288
- •
- Disease or Syndrome
Generalized thyroid hormone resistance is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991).
Thyroid hormone resistance, generalized, autosomal recessive- MedGen UID:
- 483749
- •Concept ID:
- C3489796
- •
- Disease or Syndrome
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.
Thyroid hormone metabolism, abnormal 1- MedGen UID:
- 1801974
- •Concept ID:
- C5676891
- •
- Finding
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.
Thyroid hormone metabolism, abnormal, 3- MedGen UID:
- 1824065
- •Concept ID:
- C5774292
- •
- Disease or Syndrome
Abnormal thyroid hormone metabolism-3 (THMA3) is characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH (see 188540) and free T3 levels. Patients also show low plasma selenium levels and reduced levels of stress-related selenoproteins (Schoenmakers et al., 2016; Geslot et al., 2021).
For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698).