loading...| Preferred Name |
familial dysautonomia |
|
| Synonyms |
Riley-Day syndrome |
|
| Definitions |
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] |
|
| ID |
http://radlex.org/RID/RID5269 |
|
| 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) [MeSH] |
|
| label |
RID5269 |
|
| May_Cause | ||
| Preferred_name |
familial dysautonomia |
|
| Preferred_name_German |
Familiäre Dysautonomie |
|
| prefixIRI |
RID5269 |
|
| Synonym |
Riley-Day syndrome |
|
| UMLS_ID |
C0013364 |
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| subClassOf |