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Medullary cystic kidney disease 2
- ... Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. ... pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic ... hyperuricemic nephropathy, and autosomal dominant glomerulocystic ...
- ... Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. ... pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic ... hyperuricemic nephropathy, and autosomal dominant glomerulocystic ...
- ... Autosomal dominant interstitial kidney disease Autosomal dominant medullary cystic kidney disease Polycystic kidneys, medullary type Genetic Testing Registry: Tubulointerstitial kidney disease, autosomal dominant, 2 MUC1-related autosomal dominant tubulointerstitial kidney disease National ...
- ... these organs. Mutations in the MUC1 gene cause medullary cystic kidney disease type 1 (MCKD1). This condition is characterized by ... develop fluid-filled pockets in the kidneys called medullary cysts.This ... change causes kidney disease. Why the effects of MUC1 gene mutations are ...