transthyretin amyloidosis

Summary
Synonym
  • ATTR amyloidosis
  • ATTRm amyloidosis
  • Amyloidosis, hereditary, transthyretin-related
  • Corino de Andrade's disease
  • Familial transthyretin amyloidosis
  • TTR amyloidosis
  • familial amyloid polyneuropathy
  • paramyloidosis
  • transthyretin-related hereditary amyloidosis
Definition
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
Super Class
amyloidosis autosomal dominant disease heart disease inherited metabolic disorder
Disease Ontology
DOID:0050638
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7276 TTR transthyretin
Displaying 1 entry
Gene ID Gene Symbol Description Source
22139 Ttr transthyretin
Displaying 1 entry
Gene ID Gene Symbol Description Source
24856 Ttr transthyretin
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
397787 ttr.L transthyretin L homeolog Xenopus laevis (African clawed frog)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024