Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autonomic nervous system disorder |
| gptkbp:affects |
autonomic nervous system
sensory nervous system |
| gptkbp:alsoKnownAs |
gptkb:Riley-Day_syndrome
|
| gptkbp:category |
rare disease
hereditary sensory and autonomic neuropathy type III |
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial dysautonomia
|
| 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 |
4
|