cryopyrin-associated periodic syndromes
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
autoimmune disease
|
| gptkbp:abbreviation |
gptkb:CAPS
|
| gptkbp:affects |
adults
children |
| gptkbp:category |
genetic disorder
rare disease |
| gptkbp:complication |
amyloidosis
hearing loss |
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
cryopyrin-associated periodic syndromes
|
| gptkbp:includes |
neonatal-onset multisystem inflammatory disease
Muckle–Wells syndrome familial cold autoinflammatory syndrome chronic infantile neurologic cutaneous and articular syndrome |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D054179
|
| gptkbp:mutationAssociatedWith |
NLRP3 gene
|
| gptkbp:OMIM |
606416
|
| gptkbp:symptom |
fever
headache joint pain conjunctivitis rash |
| gptkbp:treatment |
gptkb:canakinumab
gptkb:anakinra rilonacept IL-1 inhibitors |
| gptkbp:bfsParent |
gptkb:canakinumab
gptkb:anakinra |
| gptkbp:bfsLayer |
7
|