congenital insensitivity to pain
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder rare disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:congenital_analgesia
|
| gptkbp:category |
hereditary sensory and autonomic neuropathy
pain disorder |
| gptkbp:cause |
mutations in NTRK1 gene
mutations in PRDM12 gene mutations in SCN9A gene |
| gptkbp:complication |
burns
infections bone fractures self-injury |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1932
|
| gptkbp:frequency |
extremely rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital insensitivity to pain
|
| gptkbp:ICD-10_code |
R20.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D010146
|
| gptkbp:OMIM |
243000
|
| gptkbp:symptom |
absence of pain perception
inability to feel physical pain normal temperature sensation normal touch sensation |
| gptkbp:treatment |
supportive care
injury prevention |
| gptkbp:bfsParent |
gptkb:Beta-NGF
gptkb:NGFR gptkb:NGFR_gene gptkb:TrkC |
| gptkbp:bfsLayer |
7
|