Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Medullary cystic kidney disease 2 is an autosomal dominant disorder caused by mutations of the UMOD gene. It is characterized by renal cysts at the corticomedullary junction and hyperurecemia.
Medullary cystic kidney disease
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Medullary cystic kidney disease 1
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Medullary cystic kidney disease 2
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UMOD
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| 1. |
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 
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| 2. |
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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| 3. |
Wolf MT et al. (2004) Telomeric refinement of the MCKD1 locus on chromosome 1q21.
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Scolari F et al. (1999) Identification of a new locus for medullary cystic disease, on chromosome 16p12.
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OMIM.ORG article Omim 603860
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