Familial hyperthyroidism due to mutations in TSH receptor: genes and variants

Genes linked to Familial hyperthyroidism due to mutations in TSH receptor

• TSHR: Thyrotropin receptor

  TSH signaling through this pathway drives thyroid-hormone synthesis, iodine handling, and thyroid growth. Activating variants can cause autonomous hyperthyroidism, whereas loss-of-function variants can cause TSH resistance and congenital hypothyroidism.

  18 disease-causing and 21 uncertain variants in TSHR are linked to Familial hyperthyroidism due to mutations in TSH receptor.

Where Familial hyperthyroidism due to mutations in TSH receptor variants cluster

• TSHR Transmembrane (positions 626–649): 4 of 18 disease-causing changes, 7.1× more than its size predicts.

Known disease-causing variants in Familial hyperthyroidism due to mutations in TSH receptor

Which prediction tools work for Familial hyperthyroidism due to mutations in TSH receptor

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• PolyPhen-2: 71 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Hypothyroidism due to TSH receptor mutations is also caused by TSHR variants; they fall mostly in different places as the Familial hyperthyroidism due to mutations in TSH receptor variants (24 disease-causing).
• Familial gestational hyperthyroidism is also caused by TSHR variants; they fall mostly in different places as the Familial hyperthyroidism due to mutations in TSH receptor variants (13 disease-causing).
• Thyroid adenoma, hyperfunctioning, somatic is also caused by TSHR variants; they fall mostly in different places as the Familial hyperthyroidism due to mutations in TSH receptor variants (5 disease-causing).
• Ovarian cancer is also caused by TSHR variants; they fall partly in the same places as the Familial hyperthyroidism due to mutations in TSH receptor variants (4 disease-causing).

Diseases related to Familial hyperthyroidism due to mutations in TSH receptor

• Ovarian cancer, also linked to TSHR
• Hypothyroidism due to TSH receptor mutations, also linked to TSHR
• Familial gestational hyperthyroidism, also linked to TSHR
• Hyperthyroidism, also linked to TSHR
• Hypothyroidism, also linked to TSHR
• Thyroid adenoma, hyperfunctioning, somatic, also linked to TSHR

Frequently asked questions

Which genes are linked to Familial hyperthyroidism due to mutations in TSH receptor?

In CATVariant, Familial hyperthyroidism due to mutations in TSH receptor is linked to 1 analyzed protein: TSHR (Thyrotropin receptor).

How many genetic variants are linked to Familial hyperthyroidism due to mutations in TSH receptor?

54 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 21 are of uncertain significance or have conflicting reports.

Which uncertain variants in Familial hyperthyroidism due to mutations in TSH receptor look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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