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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09848 | Lactase/phlorizin hydrolase | |
| P14555 | Phospholipase A2, membrane associated | |
| P16278 | Beta-galactosidase | |
| P22897 | Macrophage mannose receptor 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P78333 | Glypican-5 |
