Thyroid hormone resistance syndrome: genes and variants
Thyroid hormone resistance syndrome is linked to 1 analyzed protein (THRB). 4 DNA variants are known to cause it; 0 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 Thyroid hormone resistance syndrome
THRB: Thyroid hormone receptor beta
4 disease-causing and 0 uncertain variants in THRB are linked to Thyroid hormone resistance syndrome.
Known disease-causing variants in Thyroid hormone resistance syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| THRB A317T | 317 | NR LBD | Disease-causing (★★★★) |
| THRB A234T | 234 | NR LBD | Disease-causing (★★★★) |
| THRB A317S | 317 | NR LBD | Disease-causing (★★) |
| THRB H435Q | 435 | NR LBD | Disease-causing (★★) |
Same protein, different disease
- Thyroid hormone resistance, generalized, autosomal dominant is also caused by THRB variants; they fall mostly in different places as the Thyroid hormone resistance syndrome variants (35 disease-causing).
- Hyperthyroidism is also caused by THRB variants; they fall mostly in different places as the Thyroid hormone resistance syndrome variants (10 disease-causing).
- Selective pituitary resistance to thyroid hormone is also caused by THRB variants; they fall mostly in different places as the Thyroid hormone resistance syndrome variants (5 disease-causing).
- Generalized resistance to thyroid hormone is also caused by THRB variants; they fall mostly in different places as the Thyroid hormone resistance syndrome variants (4 disease-causing).
Diseases related to Thyroid hormone resistance syndrome
- Thyroid hormone resistance, generalized, autosomal dominant, also linked to THRB
- Hyperthyroidism, also linked to THRB
- Hypothyroidism, also linked to THRB
- Selective pituitary resistance to thyroid hormone, also linked to THRB
- Generalized resistance to thyroid hormone, also linked to THRB
Frequently asked questions
Which genes are linked to Thyroid hormone resistance syndrome?
In CATVariant, Thyroid hormone resistance syndrome is linked to 1 analyzed protein: THRB (Thyroid hormone receptor beta).
How many genetic variants are linked to Thyroid hormone resistance syndrome?
5 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thyroid hormone resistance syndrome 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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