Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
hereditary sensory and autonomic neuropathy
|
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alsoKnownAs |
Hereditary sensory neuropathy type I
|
| gptkbp:category |
genetic disorder
muscular dystrophy |
| gptkbp:complication |
amputation
osteomyelitis chronic skin ulcers |
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
1922
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN type I
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SPTLC1
gptkb:SPTLC2 |
| gptkbp:OMIM |
162400
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle weakness
loss of pain sensation ulceration of feet and hands progressive distal sensory loss |
| gptkbp:treatment |
supportive care
pain management prevention of injury |
| gptkbp:bfsParent |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
gptkb:hereditary_sensory_and_autonomic_neuropathy |
| gptkbp:bfsLayer |
8
|