Hyperthyroxinemia, dystransthyretinemic: genes and variants
Hyperthyroxinemia, dystransthyretinemic is linked to 1 analyzed protein (TTR). 7 DNA variants are known to cause it; 21 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 Hyperthyroxinemia, dystransthyretinemic
TTR: Transthyretin
Its tetramer transports thyroxine and retinol-binding protein, but destabilization can expose aggregation-prone monomers. Pathogenic variants cause hereditary transthyretin amyloidosis affecting peripheral nerves and heart, while wild-type protein can also form cardiac amyloid with aging.
7 disease-causing and 21 uncertain variants in TTR are linked to Hyperthyroxinemia, dystransthyretinemic.
Known disease-causing variants in Hyperthyroxinemia, dystransthyretinemic
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TTR A117S | 117 | Disease-causing (★★) | |
| TTR S97Y | 97 | Disease-causing (★★) | |
| TTR F84L | 84 | Disease-causing (★★) | |
| TTR A117G | 117 | Disease-causing (★★) | |
| TTR V50M | 50 | Disease-causing (★★) | |
| TTR I88L | 88 | Disease-causing (★★) | |
| TTR I127V | 127 | Disease-causing (★★) |
Same protein, different disease
- Amyloidosis, hereditary systemic 1 is also caused by TTR variants; they fall mostly in different places as the Hyperthyroxinemia, dystransthyretinemic variants (101 disease-causing).
Diseases related to Hyperthyroxinemia, dystransthyretinemic
- Charcot-Marie-Tooth disease, also linked to TTR
- Amyloidosis, hereditary systemic 1, also linked to TTR
- Carpal tunnel syndrome, also linked to TTR
Frequently asked questions
Which genes are linked to Hyperthyroxinemia, dystransthyretinemic?
In CATVariant, Hyperthyroxinemia, dystransthyretinemic is linked to 1 analyzed protein: TTR (Transthyretin).
How many genetic variants are linked to Hyperthyroxinemia, dystransthyretinemic?
28 variants: 7 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 Hyperthyroxinemia, dystransthyretinemic 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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