congenital insensitivity to pain with anhidrosis
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:CIPA
gptkb:Hereditary_sensory_and_autonomic_neuropathy_type_IV |
| gptkbp:cause |
mutations in NTRK1 gene
|
| gptkbp:complication |
infections
bone fractures self-mutilation |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1963
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital insensitivity to pain with anhidrosis
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
256800
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
intellectual disability
inability to feel pain lack of sweating recurrent fevers |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:TrkA
|
| gptkbp:bfsLayer |
6
|