hereditary sensory neuropathy type 1C
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary sensory and autonomic neuropathy |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
HSAN1C
|
| gptkbp:hasGeneticCause |
SPTLC2 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary sensory neuropathy type 1C
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
613640
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:symptom |
loss of pain sensation
progressive sensory loss ulceration of the feet |
| gptkbp:bfsParent |
gptkb:Rab7
|
| gptkbp:bfsLayer |
7
|