GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Familial Amyloid Nephropathy With Urticaria And Deafness(Muckle-Wells syndrome)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Nephrological disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 NLRP3/114548 NLR family pyrin domain containing 3 1q44 Chr1, NC_000001.11
(247416077..247448817)
32741 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development