"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
|
MeSH Number(s) |
C10.177.575.300 C10.500.310.309 C10.574.500.496.250 C10.668.829.800.175.250 C16.131.666.310.309 C16.320.400.415.309
|
Concept/Terms |
Dysautonomia, Familial- Dysautonomia, Familial
- HSAN Type III
- Riley-Day Syndrome
- Riley Day Syndrome
- Hereditary-Sensory and Autonomic Neuropathy Type III
- Hereditary Sensory and Autonomic Neuropathy Type III
- Neuropathy, Hereditary and Autonomic, Type III
- Dominant Hereditary Sensory Neuropathy, Type III
- Hereditary Sensory Neuropathy, Dominant, Type 3
- Hereditary Sensory Neuropathy, Dominant, Type III
- HSN-III
- HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
- Type III Hereditary Sensory Neuropathy, Dominant
- Type 3 Hereditary Sensory Neuropathy, Dominant
- HSAN 3
- Hereditary Sensory Neuropathy Type 3
- Hereditary Sensory and Autonomic Neuropathy 3
- HSAN III
- Familial Dysautonomia
- HSAN3
- Neuropathy, Hereditary Sensory And Autonomic, Type III
- Hereditary Sensory Neuropathy, Type 3, Dominant
|
Below are MeSH descriptors whose meaning is more general than "Dysautonomia, Familial".
- Diseases [C]
- Nervous System Diseases [C10]
- Autonomic Nervous System Diseases [C10.177]
- Primary Dysautonomias [C10.177.575]
- Dysautonomia, Familial [C10.177.575.300]
- 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 [C10.668.829.800.175]
- Dysautonomia, Familial [C10.668.829.800.175.250]
- 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]
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 |
---|
2023 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Dysautonomia, Familial" by people in Profiles.
-
Schultz A, Cheng SY, Kirchner E, Costello S, Miettinen H, Chaverra M, King C, George L, Zhao X, Narasimhan J, Weetall M, Slaugenhaupt S, Morini E, Punzo C, Lefcort F. Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators. Sci Rep. 2023 10 30; 13(1):18600.
-
Singh K, Palma JA, Kaufmann H, Tkachenko N, Norcliffe-Kaufmann L, Spalink C, Kazachkov M, Kothare SV. Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Med. 2018 05; 45:33-38.