transthyretin amyloidosis

Term ID

DOID:0050638

Synonyms

• Amyloidosis, hereditary, transthyretin-related
• ATTR amyloidosis
• ATTRm amyloidosis
• Corino de Andrade's disease
• familial amyloid polyneuropathy
• Familial transthyretin amyloidosis
• paramyloidosis
• transthyretin-related hereditary amyloidosis
• TTR 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. (7)

References

• GARD:656
• ICD10CM:E85.82
• OMIM:105210
• ORDO:85447

Ontology

Human Disease   ( DOID:0050638 )