Rare diseases · Sign or symptom
Transthyretin amyloid deposition
HP:0020017
What it means
Deposition of misfolded transthyretin (TTR) protein in tissue.
Transthyretin (previously known as prealbumin) is a normal circulating protein that functions as a carrier protein for retinol (vitamin A) and thyroxine. Usually, it circulates in a tetrameric form composed of 4 beta-sheet-rich monomers. However, structural changes in the TTR protein can cause it to misfold and lose the tetrameric form, causing it to aggregate and deposit in various tissues.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.