Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary sensory and autonomic neuropathy |
| gptkbp:abbreviation |
gptkb:HSAN_IV
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:congenital_insensitivity_to_pain_with_anhidrosis
|
| gptkbp:cause |
mutation in NTRK1 gene
|
| gptkbp:complication |
recurrent infections
osteomyelitis bone fractures |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1963
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN type IV
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
256800
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
intellectual disability
insensitivity to pain anhidrosis recurrent fevers self-mutilating behavior |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
gptkb:hereditary_sensory_and_autonomic_neuropathy |
| gptkbp:bfsLayer |
8
|