|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:autonomic_nervous_system_disorder
|
|
gptkbp:affects
|
autonomic nervous system
sensory nervous system
|
|
gptkbp:alsoKnownAs
|
gptkb:Riley-Day_syndrome
|
|
gptkbp:category
|
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_III
gptkb:rare_disease
|
|
gptkbp:complication
|
gptkb:orthostatic_hypotension
gastrointestinal problems
respiratory infections
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Conrad_M._Riley
gptkb:Richard_L._Day
1949
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:ICD-10_code
|
gptkb:G90.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:lifeExpectancy
|
reduced
|
|
gptkbp:mutationAssociatedWith
|
gptkb:IKBKAP_gene
|
|
gptkbp:notableFeature
|
absence of fungiform papillae on tongue
lack of overflow tears when crying
|
|
gptkbp:OMIM
|
223900
|
|
gptkbp:prevalence
|
most common in Ashkenazi Jewish population
|
|
gptkbp:symptom
|
difficulty swallowing
absence of tears
dysautonomia
insensitivity to pain
poor growth
recurrent pneumonia
unstable blood pressure
|
|
gptkbp:treatment
|
supportive care
|
|
gptkbp:bfsParent
|
gptkb:Ashkenazi_Jews
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Familial dysautonomia
|