Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

PRIMARY DYSAUTONOMIAS is also available

MeSH Record

History Note

1981; uss AUTONOMIC DYSFUNCTION 1963-1980

MeSH Hierarchy

Tree Numbers

MeSH Record

NLM Classification

WL 600

AMA Style

References

  1. National Library of Medicine. Familial Dysautonomia. Medical Subject Headings (MeSH). 2026. Unique ID D004402. http://id.nlm.nih.gov/mesh/2026/D004402
  2. Familial Dysautonomia. In: Wikipedia. https://en.wikipedia.org/wiki/Familial_dysautonomia
  3. Familial Dysautonomia. In: Wikidata. https://www.wikidata.org/wiki/Q2325854