Transthyretin-Related Hereditary Amyloidosis

Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210

Also Known As:

Amyloidosis, Hereditary, Transthyretin-Related; Familial Transthyretin Cardiac Amyloidosis; Hereditary Amyloidosis, Transthyretin-Related; Transthyretin Amyloidosis; hereditary transthyretin amyloidosis

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Familial Amyloid Neuropathies: 657
      - Transthyretin-Related Hereditary Amyloidosis: 609
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Amyloid Neuropathies: 177
      - Familial Amyloid Neuropathies: 657
        Transthyretin-Related Hereditary Amyloidosis: 609
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Familial Amyloidosis: 402
      - Familial Amyloid Neuropathies: 657
        Transthyretin-Related Hereditary Amyloidosis: 609
  - Nervous System Heredodegenerative Disorders: 62
    - Familial Amyloid Neuropathies: 657
      - Transthyretin-Related Hereditary Amyloidosis: 609
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Proteostasis Deficiencies: 1476
    - Amyloidosis: 11961
      - Familial Amyloidosis: 402
        Familial Amyloid Neuropathies: 657
        Transthyretin-Related Hereditary Amyloidosis: 609
      - Amyloid Neuropathies: 177
        Familial Amyloid Neuropathies: 657
        Transthyretin-Related Hereditary Amyloidosis: 609
  - Inborn Errors Metabolism: 1183
    - Familial Amyloidosis: 402
      - Familial Amyloid Neuropathies: 657
        Transthyretin-Related Hereditary Amyloidosis: 609

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Christian Antolik Research Topics

Disease

Drug/Important Bio-Agent (IBA)