KEGG   VARIANT: 114548v1
Entry
114548v1                      Variant                              
Name
NLRP3 mutation
Type
Gain of function
Gene
NLRP3  NLR family pyrin domain containing 3 [KO:K12800]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606416
Network
nt06521  NLR signaling
Disease
H00604  Deafness, autosomal dominant
H02159  Familial cold autoinflammatory syndrome
H02555  Muckle-Wells syndrome
H02556  CINCA syndrome
Reference
  Authors
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
  Title
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
  Journal
Nat Immunol 18:832-842 (2017)
DOI:10.1038/ni.3777
Reference
  Authors
Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ
  Title
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
  Journal
Proc Natl Acad Sci U S A 114:E7766-E7775 (2017)
DOI:10.1073/pnas.1702946114
LinkDB

DBGET integrated database retrieval system