Table 2.

Phenotypes Associated with Hereditary Transthyretin (ATTR) Amyloidosis

PhenotypeRepresentative Genotype
ATTR amyloid
(familial amyloid
  • Sensorimotor polyneuropathy of the legs
  • Carpal tunnel syndrome
  • Autonomic dysfunction
  • Constipation &/or diarrhea
  • Impotence
  • Cardiomyopathy
  • Vitreous opacities
  • Glaucoma
  • Nephropathy
  • CNS symptoms
p.Val50Met 1
ATTR cardiac
(familial amyloid
  • Cardiomegaly
  • Conduction block
  • Arrhythmia
  • Anginal pain
  • Congestive heart failure
  • Sudden death
amyloidosis /
cerebral amyloid
  • Transient focal neurologic episodes
  • Hemorrhage (intracerebral &/or subarachnoid)
  • Dementia
  • Ataxia
  • Spasticity
  • Seizures
  • Psychosis
  • Hydrocephalus

Historical protein numbering was based on the mature protein after cleavage of a 20-amino-acid signal sequence (i.e., p.Val50Met would be referred to as Val30Met). Standard nomenclature uses numbering beginning at the Met initiation codon. Variants reported in older literature may use historical nomenclature.

From: Hereditary Transthyretin Amyloidosis

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.