Renal Tubulopathies and related disorders
Gene: UMOD
Gene is associated with multiple renal phenotypes.
Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is characterised by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Multiple families reported.
Sources: Expert ReviewCreated: 29 Jan 2021, 11:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000
Publications
Expressed on renal primary cilia and well reported to cause cystic kidney diseaseCreated: 19 May 2020, 11:42 p.m. | Last Modified: 19 May 2020, 11:42 p.m.
Panel Version: 0.161
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)
Publications
not a CAKUT geneCreated: 27 Nov 2019, 11:32 p.m. | Last Modified: 27 Nov 2019, 11:32 p.m.
Panel Version: 0.0
gene: UMOD was added gene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 12471200; 12629136 Phenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000