Familial Amyloid Nephropathy With Urticaria And Deafness(Muckle-Wells syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Nephrological disorders category
Reported Pathogenic variants
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 |