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
External Links
Disease Ontology
DOID:0050638
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3
2262 GPC5 glypican 5
2720 GLB1 galactosidase beta 1
3938 LCT lactase
4360 MRC1 mannose receptor C-type 1
4595 MUTYH mutY DNA glycosylase
5320 PLA2G2A phospholipase A2 group IIA
5743 PTGS2 prostaglandin-endoperoxide synthase 2

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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: August 19, 2024