Dysautonomia, Familial
"Dysautonomia, Familial" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D004402
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MeSH Number(s) |
C10.114.750.137.250 C10.177.575.300 C10.314.750.600.250 C10.500.310.309 C10.574.500.496.250 C10.668.829.800.625.200 C10.668.829.800.750.450.250 C16.131.666.310.309 C16.320.400.415.309 C20.111.258.750.600.250
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Concept/Terms |
Dysautonomia, Familial- Dysautonomia, Familial
- Familial Dysautonomia
- Hereditary Sensory Neuropathy, Dominant, Type 3
- Hereditary Sensory Neuropathy, Dominant, Type III
- Hereditary Sensory Neuropathy, Type 3, Dominant
- Hereditary-Sensory and Autonomic Neuropathy Type III
- Hereditary Sensory and Autonomic Neuropathy Type III
- HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
- HSAN 3
- HSAN Type III
- HSAN Type IIIs
- Neuropathy, Hereditary and Autonomic, Type III
- Riley-Day Syndrome
- Riley Day Syndrome
- Type 3 Hereditary Sensory Neuropathy, Dominant
- Type III Hereditary Sensory Neuropathy, Dominant
- Hereditary Sensory Neuropathy Type 3
- Hereditary Sensory and Autonomic Neuropathy 3
- Dominant Hereditary Sensory Neuropathy, Type III
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Below are MeSH descriptors whose meaning is more general than "Dysautonomia, Familial".
- Diseases [C]
- Nervous System Diseases [C10]
- Autoimmune Diseases of the Nervous System [C10.114]
- Polyradiculoneuropathy [C10.114.750]
- Hereditary Sensory and Autonomic Neuropathies [C10.114.750.137]
- Dysautonomia, Familial [C10.114.750.137.250]
- Autonomic Nervous System Diseases [C10.177]
- Primary Dysautonomias [C10.177.575]
- Dysautonomia, Familial [C10.177.575.300]
- Demyelinating Diseases [C10.314]
- Polyradiculoneuropathy [C10.314.750]
- Hereditary Sensory and Autonomic Neuropathies [C10.314.750.600]
- Dysautonomia, Familial [C10.314.750.600.250]
- Nervous System Malformations [C10.500]
- Hereditary Sensory and Autonomic Neuropathies [C10.500.310]
- Dysautonomia, Familial [C10.500.310.309]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Hereditary Sensory and Autonomic Neuropathies [C10.574.500.496]
- Dysautonomia, Familial [C10.574.500.496.250]
- Neuromuscular Diseases [C10.668]
- Peripheral Nervous System Diseases [C10.668.829]
- Polyneuropathies [C10.668.829.800]
- Hereditary Sensory and Autonomic Neuropathies [C10.668.829.800.625]
- Dysautonomia, Familial [C10.668.829.800.625.200]
- Polyradiculoneuropathy [C10.668.829.800.750]
- Hereditary Sensory and Autonomic Neuropathies [C10.668.829.800.750.450]
- Dysautonomia, Familial [C10.668.829.800.750.450.250]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Nervous System Malformations [C16.131.666]
- Hereditary Sensory and Autonomic Neuropathies [C16.131.666.310]
- Dysautonomia, Familial [C16.131.666.310.309]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415]
- Dysautonomia, Familial [C16.320.400.415.309]
- Immune System Diseases [C20]
- Autoimmune Diseases [C20.111]
- Autoimmune Diseases of the Nervous System [C20.111.258]
- Polyradiculoneuropathy [C20.111.258.750]
- Hereditary Sensory and Autonomic Neuropathies [C20.111.258.750.600]
- Dysautonomia, Familial [C20.111.258.750.600.250]
Below are MeSH descriptors whose meaning is more specific than "Dysautonomia, Familial".
This graph shows the total number of publications written about "Dysautonomia, Familial" by people in this website by year, and whether "Dysautonomia, Familial" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2006 | 1 | 0 | 1 | 2008 | 1 | 0 | 1 | 2011 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dysautonomia, Familial" by people in Profiles.
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Carroll MS, Kenny AS, Patwari PP, Ramirez JM, Weese-Mayer DE. Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia. Pediatr Pulmonol. 2012 Jul; 47(7):682-91.
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Weese-Mayer DE, Kenny AS, Bennett HL, Ramirez JM, Leurgans SE. Familial dysautonomia: frequent, prolonged and severe hypoxemia during wakefulness and sleep. Pediatr Pulmonol. 2008 Mar; 43(3):251-60.
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Ngai J, Kreynin I, Kim JT, Axelrod FB. Anesthesia management of familial dysautonomia. Paediatr Anaesth. 2006 Jun; 16(6):611-20.
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Wengrower D, Gozal D, Goldin E. Familial dysautonomia: deep sedation and management in endoscopic procedures. Am J Gastroenterol. 2002 Oct; 97(10):2550-2.
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Maayan C, Becker Y, Gesundheit B, Girgis SI. Calcitonin gene related peptide in familial dysautonomia. Neuropeptides. 2001 Jun-Aug; 35(3-4):189-95.
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Maayan C, Nimrod A, Morag A, Becker Y. Herpes simplex virus-1 and varicella virus infections in familial dysautonomia patients. J Med Virol. 1998 Mar; 54(3):158-61.
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