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: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Familial Amyloid Neuropathies: 656
      - Transthyretin-Related Hereditary Amyloidosis: 577
- Neuromuscular Diseases: 2005
  - Peripheral Nervous System Diseases: 11383
    - Amyloid Neuropathies: 170
      - Familial Amyloid Neuropathies: 656
        Transthyretin-Related Hereditary Amyloidosis: 577
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Familial Amyloidosis: 393
      - Familial Amyloid Neuropathies: 656
        Transthyretin-Related Hereditary Amyloidosis: 577
  - Nervous System Heredodegenerative Disorders: 63
    - Familial Amyloid Neuropathies: 656
      - Transthyretin-Related Hereditary Amyloidosis: 577
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Proteostasis Deficiencies: 1400
    - Amyloidosis: 11630
      - Familial Amyloidosis: 393
        Familial Amyloid Neuropathies: 656
        Transthyretin-Related Hereditary Amyloidosis: 577
      - Amyloid Neuropathies: 170
        Familial Amyloid Neuropathies: 656
        Transthyretin-Related Hereditary Amyloidosis: 577
  - Inborn Errors Metabolism: 1162
    - Familial Amyloidosis: 393
      - Familial Amyloid Neuropathies: 656
        Transthyretin-Related Hereditary Amyloidosis: 577

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