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Nervous System Diseases > Nervous System Malformations > Hereditary Sensory and Autonomic Neuropathies > Dysautonomia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Hereditary Sensory and Autonomic Neuropathies > Dysautonomia, Familial
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Hereditary Sensory and Autonomic Neuropathies > Dysautonomia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Autonomic Neuropathies > Dysautonomia, Familial
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Autonomic Neuropathies > Dysautonomia, Familial
Nervous System Diseases > Autonomic Nervous System Diseases > Primary Dysautonomias > Dysautonomia, Familial

Terme préférentiel

Dysautonomia, Familial  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Dysautonomie familiale

    français

  • Déséquilibre neurovégétatif familial
  • Dysautonomie familiale de Riley-Day
  • Neuropathie héréditaire sensitive et autonome de type 3
  • Neuropathie héréditaire sensitive et autonome de type III
  • Neuropathie héréditaire sensorielle et autonome de type 3
  • NHSA de type 3
  • NHSA de type III
  • Syndrome de Riley-Day

URI

http://data.loterre.fr/ark:/67375/JVR-NJHB7C6T-0

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2018