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Familial dysautonomia

Disease definition

A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.

ORPHA:1764

Classification level: Disorder
  • Synonym(s):
    • HSAN3
    • Hereditary sensory and autonomic neuropathy type 3
    • Hereditary sensory and autonomic neuropathy type III
    • Riley-Day syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: G90.1
  • OMIM: 223900
  • UMLS: C0013364
  • MeSH: D004402
  • GARD: 7581
  • MedDRA: 10039179

Detailed information

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