Monogenic hearing loss
Gene: NLRP3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#120100:Familial cold-induced inflammatory syndrome 1[Conjunctivitis; Renal amyloidosis, late-onset (uncommon); Arthralgia, episodic; Maculopapular rash, episodicRash may or may not be pruritic; Myalgia, episodicSwelling of the extremities, episodic; Headache, episodic; Fever, episodic; Polymorphonuclear leukocytosis, episodicIncreased serum C-reactive protein, episodic]; #191900:Muckle-Wells syndrome[Sensorineural deafness, progressive, late-onset; Conjunctivitis, episodic; Aphthous ulcers; Renal amyloidosis, late-onsetRenal failure; Arthralgia, episodic; Lower extremity pain; Maculopapular rash, episodicRash may or may not be pruritic; Myalgia, episodic; Fever, episodic; Polymorphonuclear leukocytosis, episodicIncreased IL6, episodic; Polymorphonuclear leukocytosis, episodicIncreased erythrocyte sedimentation rate, episodicIncreased IL6, episodic]; #607115:CINCA syndrome[<omim version=1.0><clinicalSynopsisList>]
Publications
Phenotypes for gene: NLRP3 were changed from Cold-induced autoinflammatory syndrome, familial, 120100; Coldinducedautoinflammatorysyndrome,familial,120100MuckleWellssyndrome,191900CINCAsyndrome,607115 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Muckle-Wells syndrome, OMIM:191900
Mode of inheritance for gene: NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NLRP3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen