Familial amyloid neuropathy

Definition

A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.

Also known as amyloid neuropathies, familial, ATTRv amyloidosis, familial amyloid neuropathy, familial amyloid polyneuropathy, familial transthyretin-related amyloidosis, familial TTR-related amyloidosis, hATTR, hereditary transthyretin amyloid polyneuropathy, hereditary TTR amyloid polyneuropathy, hereditary TTR amyloidosis, paramyloidosis — per MONDO

Also identified as

• DOID 0050638 per MONDO
• DOID 0050761 per MONDO
• ICD9 277.39 per MONDO
• MESH C567782 per MONDO
• NCIT C84554 per MONDO
• Orphanet 271861 per MONDO
• SCTID 42295001 per MONDO
• UMLS C0206245 per MONDO

Affected Organs