Congenital Insensitivity to Pain with Anhidrosis
GPTKB entity
Statements (28)
| 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 corneal injuries |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1963
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Congenital Insensitivity to Pain with Anhidrosis
|
| gptkbp:ICD-10_code |
G60.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
256800
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:riskFactor |
consanguinity
|
| gptkbp:symptom |
inability to feel pain
recurrent fevers self-mutilating behaviors inability to sweat |
| gptkbp:treatment |
supportive care
injury prevention management of infections |
| gptkbp:bfsParent |
gptkb:CIPA
|
| gptkbp:bfsLayer |
7
|