Familial dysautonomia

Introduction: Familial dysautonomia

Description of Familial dysautonomia

Familial dysautonomia (medical condition): An inherited biochemical disorder that primarily affects the autonomic and sensory nervous system. See also Familial dysautonomia:
  »Introduction: Familial dysautonomia
  »Symptoms of Familial dysautonomia

Familial dysautonomia: [MIM*223900] a congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance. Mapped to human chromosome 9q31-q33. SYN: Riley-Day syndrome.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

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)
Source: Diseases Database

Familial dysautonomia: 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, 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.
Source: CRISP

Familial dysautonomia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Familial dysautonomia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Familial dysautonomia, or a subtype of Familial dysautonomia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Familial dysautonomia as a "rare disease".

Source - Orphanet

Familial dysautonomia as a Disease

Familial dysautonomia (medical condition): See Familial dysautonomia (disease information).
  »Introduction: Familial dysautonomia
  »Symptoms of Familial dysautonomia

More information on medical condition: Familial dysautonomia:

• Information about Familial dysautonomia
• Basic Summary for Familial dysautonomia
• Symptoms of Familial dysautonomia
• Complications of Familial dysautonomia

Terms associated with Familial dysautonomia:

Terms Similar to Familial dysautonomia:

• HSAN type 3
• Riley-Day syndrome
• Hereditary sensory and autonomic neuropathy type 3

Source: Diseases Database

• Dysautonomia, familial
• FD
• HSAN III
• HSN III
• Hereditary sensory and autonomic neuropathy III
• Hereditary sensory neuropathy type III
• Riley Day syndrome

Source - NIH

Broader terms for Familial dysautonomia

• congenital nervous system disorder
• genetic disorder

Source - CRISP

The term Familial dysautonomia can be used for:

• familial autonomic nervous dysfunction
• Riley Day syndrome

Source: CRISP

Other terms that may be related to Familial dysautonomia:

• hereditary sensory neuropathy
• psychosis

Source: CRISP

External links related to: Familial dysautonomia

• Riley-Day syndrome
• OMIM - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
• GeneReviews: Familial Dysautonomia
• Familial dysautonomia - Genetics Home Reference
• Riley-Day syndrome (www.whonamedit.com)
• eMedicine - Familial Dysautonomia : Article by Robert A D'Amico, MD

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

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