Details of Disease

General Information of Disease (ID: DISJP3J0)

• Disease Name: Transthyretin amyloidosis
• Synonyms: hereditary amyloidosis, transthyretin-related; transthyretin amyloidosis; amyloid neuropathies, familial; hereditary TTR amyloidosis; familial transthyretin amyloidosis; hereditary transthyretin amyloid polyneuropathy; amyloidosis, hereditary, transthyretin-related; familial transthyretin-related amyloidosis; amyloid polyneuropathy, familial; paramyloidosis; familial amyloid neuropathy; TTR amyloidosis; ATTRv amyloidosis; transthyretin-related hereditary amyloidosis; amyloid cardiomyopathy, transthyretin-related; amyloidosis, leptomeningeal, transthyretin-related; hATTR; familial amyloid polyneuropathy; familial TTR-related amyloidosis; hereditary TTR amyloid polyneuropathy; Corino de Andrade's disease
• Disease Class: 5D00: Amyloidosis
• 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.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS1GS6H: Hereditary amyloidosis
  DISJP3J0: Transthyretin amyloidosis
• ICD Code: ICD-11: ICD-11: 5D00

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
NTLA-2001	DM1WDGE	Phase 1	Gene therapy	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTR	OTAFXQRA	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TTR	TTPOYU7	Definitive	Autosomal dominant	[2]

References

• [1] ClinicalTrials.gov (NCT04601051) Phase 1 Two-Part (Open-label, Single Ascending Dose (Part 1) and Open-label, Single Dose Expansion (Part 2)) Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN) and Patients With Transthyretin Amyloidosis-Related Cardiomyopathy (ATTR-CM). U.S.National Institutes of Health.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.