Familial Dysautonomia

An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)

Also Known As:

Riley Day Syndrome; HSAN Type III; Hereditary-Sensory and Autonomic Neuropathy Type III; Dysautonomia, Familial; Dominant Hereditary Sensory Neuropathy, Type III; HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III; HSAN 3; HSAN III; HSAN3; HSN-III; Hereditary Sensory Neuropathy Type 3; Hereditary Sensory Neuropathy, Dominant, Type 3; Hereditary Sensory Neuropathy, Dominant, Type III; Hereditary Sensory Neuropathy, Type 3, Dominant; Hereditary Sensory and Autonomic Neuropathy 3; Neuropathy, Hereditary Sensory And Autonomic, Type III; Type 3 Hereditary Sensory Neuropathy, Dominant; Type III Hereditary Sensory Neuropathy, Dominant; Hereditary Sensory and Autonomic Neuropathy Type III; Neuropathy, Hereditary and Autonomic, Type III; Riley-Day Syndrome

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Autonomic Neuropathies: 332
      - Familial Dysautonomia: 222
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Autonomic Neuropathies: 332
        Familial Dysautonomia: 222
- Autonomic Nervous System Diseases: 740
  - Primary Dysautonomias: 5
    - Familial Dysautonomia: 222
- Nervous System Malformations: 36
  - Hereditary Sensory and Autonomic Neuropathies: 332
    - Familial Dysautonomia: 222
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Hereditary Sensory and Autonomic Neuropathies: 332
      - Familial Dysautonomia: 222
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Autonomic Neuropathies: 332
      - Familial Dysautonomia: 222

Barr Morgenstein Selected Research

Barr Morgenstein Research Topics

Disease

Drug/Important Bio-Agent (IBA)