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Dysautonomia, Familial

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)

Year introduced: 1981

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Subheadings:

Tree Number(s): C10.177.575.300, C10.500.250.309, C10.574.500.493.250, C10.668.829.800.175.250, C16.131.666.310.309, C16.320.400.415.309

MeSH Unique ID: D004402

Entry Terms:

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

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