Familial gestational hyperthyroidism: genes and variants
Familial gestational hyperthyroidism is linked to 1 analyzed protein (TSHR). 13 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial gestational hyperthyroidism
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.
13 disease-causing and 9 uncertain variants in TSHR are linked to Familial gestational hyperthyroidism.
Known disease-causing variants in Familial gestational hyperthyroidism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TSHR C390W | 390 | Extracellular | Disease-causing (★★★★) |
| TSHR Q90P | 90 | Extracellular | Disease-causing (★★) |
| TSHR R450H | 450 | Cytoplasmic | Disease-causing (★★) |
| TSHR R519H | 519 | Cytoplasmic | Disease-causing (★★) |
| TSHR P162A | 162 | LRR 3 | Disease-causing (★★) |
| TSHR R109Q | 109 | LRR 1 | Disease-causing (★★) |
| TSHR A553T | 553 | Transmembrane | Disease-causing (★★) |
| TSHR V689G | 689 | Cytoplasmic | Disease-causing (★) |
| TSHR P162L | 162 | LRR 3 | Disease-causing (★) |
| TSHR S505R | 505 | Transmembrane | Disease-causing (★) |
| TSHR R528S | 528 | Cytoplasmic | Disease-causing (★) |
| TSHR G132R | 132 | LRR 2 | Disease-causing |
| TSHR K183R | 183 | LRR 4 | Disease-causing |
Which prediction tools work for Familial gestational hyperthyroidism
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 69 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 gestational hyperthyroidism variants (24 disease-causing).
- Familial hyperthyroidism due to mutations in TSH receptor is also caused by TSHR variants; they fall mostly in different places as the Familial gestational hyperthyroidism variants (18 disease-causing).
- Thyroid adenoma, hyperfunctioning, somatic is also caused by TSHR variants; they fall mostly in different places as the Familial gestational hyperthyroidism variants (5 disease-causing).
- Ovarian cancer is also caused by TSHR variants; they fall partly in the same places as the Familial gestational hyperthyroidism variants (4 disease-causing).
Diseases related to Familial gestational hyperthyroidism
- Ovarian cancer, also linked to TSHR
- Hypothyroidism due to TSH receptor mutations, also linked to TSHR
- Familial hyperthyroidism due to mutations in TSH receptor, 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 gestational hyperthyroidism?
In CATVariant, Familial gestational hyperthyroidism is linked to 1 analyzed protein: TSHR (Thyrotropin receptor).
How many genetic variants are linked to Familial gestational hyperthyroidism?
27 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial gestational hyperthyroidism 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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