Familial Juvenile Hyperuricemic Nephropathy Type 1 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 | UMOD/7369 | uromodulin | 16p12.3 | Chr16, NC_000016.10 (20333051..20356301, complement) |
23251 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |