Selective pituitary resistance to thyroid hormone: genes and variants
Selective pituitary resistance to thyroid hormone is linked to 1 analyzed protein (THRB). 5 DNA variants are known to cause it; 3 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 Selective pituitary resistance to thyroid hormone
THRB: Thyroid hormone receptor beta
5 disease-causing and 3 uncertain variants in THRB are linked to Selective pituitary resistance to thyroid hormone.
Where Selective pituitary resistance to thyroid hormone variants cluster
- THRB NR LBD (positions 217–461): 5 of 5 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Selective pituitary resistance to thyroid hormone
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| THRB R320C | 320 | NR LBD | Disease-causing (★★) |
| THRB R320L | 320 | NR LBD | Disease-causing (★★) |
| THRB R243Q | 243 | NR LBD | Disease-causing (★★) |
| THRB R338W | 338 | NR LBD | Disease-causing (★★) |
| THRB T337A | 337 | 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 Selective pituitary resistance to thyroid hormone variants (35 disease-causing).
- Hyperthyroidism is also caused by THRB variants; they fall partly in the same places as the Selective pituitary resistance to thyroid hormone variants (10 disease-causing).
- Generalized resistance to thyroid hormone is also caused by THRB variants; they fall mostly in different places as the Selective pituitary resistance to thyroid hormone variants (4 disease-causing).
- Thyroid hormone resistance syndrome is also caused by THRB variants; they fall mostly in different places as the Selective pituitary resistance to thyroid hormone variants (4 disease-causing).
Diseases related to Selective pituitary resistance to thyroid hormone
- Thyroid hormone resistance, generalized, autosomal dominant, also linked to THRB
- Hyperthyroidism, also linked to THRB
- Hypothyroidism, also linked to THRB
- Generalized resistance to thyroid hormone, also linked to THRB
- Thyroid hormone resistance syndrome, also linked to THRB
Frequently asked questions
Which genes are linked to Selective pituitary resistance to thyroid hormone?
In CATVariant, Selective pituitary resistance to thyroid hormone is linked to 1 analyzed protein: THRB (Thyroid hormone receptor beta).
How many genetic variants are linked to Selective pituitary resistance to thyroid hormone?
12 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Selective pituitary resistance to thyroid hormone 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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