NLRP3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_004895.3,NM_183395.1 Gene Symbol NLRP3
Protein Name Nlr family, pyrin domain containing 3
Alternate Names AGTAVPRL, AII, AII/AVP, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, MWS, NALP3, PYPAF1
Gene Locus 1q44

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
143, 144 05915 606416 114548 114548 -
 16400 ENSG00000162711 Q96P20 NLRP3

Disease name Characteristic / Associated features Category inheritance type
Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; Muckle-Wells syndrome; Schnitzler syndrome Conjunctivitis; maculopapular rash; myalgia, episodic; swelling of the extremities, episodic; headache, episodic; Fever, episodic; polymorphonuclear leukocytosis, episodic; increased serum C-reactive protein, episodic; Arthropathy; urticaria; chronic meningitis; nonpruritic urticaria; arthritis; chills; responsive to IL-1R antagonist; monoclonal IgM gammopathy; lymphadenopathy; hepatomegaly and/or splenomegaly Autoinflammatory Disorders Autosomal dominant
Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; Muckle-Wells syndrome; Schnitzler syndrome Late onset sensorineural deafness; conjunctivitis; aphthous stomatitis; recurrent late-onset renal amyloidosis; renal failure; arthralgia; Lower extremity pain; maculopapular rash; myalgia, episodic; Fever, episodic; polymorphonuclear leukocytosis, episodic; increased IL6, episodic; elevated erythrocyte sedimentation rate Autoinflammatory Disorders Autosomal dominant
Chronic infantile neurological cutaneous and articular syndrome; CINCA syndrome; Muckle-Wells syndrome; Schnitzler syndrome Chronic meningitis; arthropathy; maculopapular rash; fever, episodic; swelling of the extremities, episodic; headache, episodic; Late onset sensorineural deafness; conjunctivitis; growth retardation Autoinflammatory Disorders Autosomal dominant