Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary sensory and autonomic neuropathy |
| gptkbp:affects |
autonomic nervous system
sensory nervous system |
| gptkbp:alsoKnownAs |
gptkb:Familial_Dysautonomia
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1949
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN type III
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IKBKAP_gene
|
| gptkbp:OMIM |
223900
|
| gptkbp:prevalence |
higher in Ashkenazi Jewish population
|
| gptkbp:symptom |
gptkb:orthostatic_hypotension
absent tears gastrointestinal dysfunction poor temperature regulation reduced pain sensitivity |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
gptkb:hereditary_sensory_and_autonomic_neuropathy |
| gptkbp:bfsLayer |
8
|