hereditary sensory and autonomic neuropathy
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alsoKnownAs |
gptkb:HSAN
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:hasOrphanetID |
ORPHA:319
|
| gptkbp:ICD-10_code |
G60.8
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
162400
|
| gptkbp:onset |
childhood
infancy |
| 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 ulceration loss of pain sensation decreased sweating |
| gptkbp:treatment |
supportive care
pain management infection prevention |
| gptkbp:bfsParent |
gptkb:familial_dysautonomia
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_V |
| gptkbp:bfsLayer |
7
|