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Descriptor English: Dysautonomia, Familial
Descriptor Spanish: Disautonomía Familiar
Descriptor disautonomía familiar
Entry term(s) HSAN tipo III
neuropatía hereditaria sensitiva y autonómica de tipo III
síndrome de Riley-Day
Scope note: Trastorno autosómico de los sistemas nerviosos periférico y autonómico limitado a individuos descendientes de judíos. Las manifestaciones clínicas están presentes al nacimiento e incluyen disminución del lagrimeo, termorregulación defectuosa, HIPOTENSIÓN ORTOSTÁTICA, pupilas fijas, SUDORACIÓN excesiva, pérdida de la sensibilidad al dolor y temperatura, y ausencia de reflejos. Las características anatomopatológicas incluyen reducción del número de fibras nerviosas periféricas de diámetro pequeño y de neuronas ganglionares autónomas. (Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Descriptor Portuguese: Disautonomia Familiar
Descriptor French: Dysautonomie familiale
Entry term(s): Dominant Hereditary Sensory Neuropathy, Type III
Familial Dysautonomia
HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
HSAN 3
HSAN III
HSAN Type III
HSAN3
HSN-III
Hereditary Sensory Neuropathy Type 3
Hereditary Sensory Neuropathy, Dominant, Type 3
Hereditary Sensory Neuropathy, Dominant, Type III
Hereditary Sensory Neuropathy, Type 3, Dominant
Hereditary Sensory and Autonomic Neuropathy 3
Hereditary Sensory and Autonomic Neuropathy Type III
Hereditary-Sensory and Autonomic Neuropathy Type III
Neuropathy, Hereditary Sensory And Autonomic, Type III
Neuropathy, Hereditary and Autonomic, Type III
Riley Day Syndrome
Riley-Day Syndrome
Type 3 Hereditary Sensory Neuropathy, Dominant
Type III Hereditary Sensory Neuropathy, Dominant
Tree number(s): C10.177.575.300
C10.500.250.309
C10.574.500.493.250
C10.668.829.800.175.250
C16.131.666.310.309
C16.320.400.415.309
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D004402
Scope note: 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)
Annotation: PRIMARY DYSAUTONOMIAS is also available
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 1981; see AUTONOMIC DYSFUNCTION 1963-1980
History Note: 1981; uss AUTONOMIC DYSFUNCTION 1963-1980
DeCS ID: 23989
Unique ID: D004402
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1981/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/30
Dysautonomia, Familial - Preferred
Concept UI M0006912
Scope note 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)
Preferred term Dysautonomia, Familial
Entry term(s) Dominant Hereditary Sensory Neuropathy, Type III
Familial Dysautonomia
HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
HSAN 3
HSAN III
HSAN Type III
HSAN3
HSN-III
Hereditary Sensory Neuropathy Type 3
Hereditary Sensory Neuropathy, Dominant, Type 3
Hereditary Sensory Neuropathy, Dominant, Type III
Hereditary Sensory Neuropathy, Type 3, Dominant
Hereditary Sensory and Autonomic Neuropathy 3
Hereditary Sensory and Autonomic Neuropathy Type III
Hereditary-Sensory and Autonomic Neuropathy Type III
Neuropathy, Hereditary Sensory And Autonomic, Type III
Neuropathy, Hereditary and Autonomic, Type III
Riley Day Syndrome
Riley-Day Syndrome
Type 3 Hereditary Sensory Neuropathy, Dominant
Type III Hereditary Sensory Neuropathy, Dominant



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