Hereditary sensory and autonomic neuropathies
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
peripheral neuropathy |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
1951
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary sensory and autonomic neuropathies
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:IKBKAP_gene
gptkb:NTRK1_gene SPTLC1 gene WNK1 gene |
| gptkbp:OMIM |
162400
|
| gptkbp:subspecies |
gptkb:HSAN_type_I
gptkb:HSAN_type_II gptkb:HSAN_type_III gptkb:HSAN_type_IV gptkb:HSAN_type_V |
| gptkbp:symptom |
autonomic dysfunction
recurrent infections loss of pain sensation ulcerations |
| gptkbp:treatment |
infection control
pain management symptomatic management |
| gptkbp:bfsParent |
gptkb:HSAN_III
|
| gptkbp:bfsLayer |
7
|