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Disease Dysautonomia, Familial

Name Dysautonomia, Familial
Synonyms Dominant Hereditary Sensory Neuropathy, Type III | DYS | DYSAUTONOMIA, FAMILIAL | Familial Dysautonomia | FD | Hereditary Sensory and Autonomic Neuropathy 3 | Hereditary Sensory and Autonomic Neuropathy Type III | 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 | HSAN3 | HSAN 3 | 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 | Riley-Day Syndrome | Type 3 Hereditary Sensory Neuropathy, Dominant | Type III Hereditary Sensory Neuropathy, Dominant
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D004402
OMIM® ID 223900
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Autonomic Nervous System Diseases Has associated chemicals Has associated genes Primary Dysautonomias Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Autonomic Neuropathies Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Autonomic Neuropathies Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Polyneuropathies Has associated chemicals Has associated genes Hereditary Sensory and Autonomic Neuropathies Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Autonomic Neuropathies Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Autonomic Neuropathies Has associated chemicals Has associated genes Dysautonomia, Familial Has associated chemicals Has associated genes

Top ↑ Descendants

Dysautonomia, Familial Has associated chemicals Has associated genes
  Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance