Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Medullary cystic kidney disease 2

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.

Systematic

Medullary cystic kidney disease
Medullary cystic kidney disease 1
Medullary cystic kidney disease 2
UMOD

References:

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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4.

Scolari F et al. (1999) Identification of a new locus for medullary cystic disease, on chromosome 16p12.

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5.

OMIM.ORG article

Omim 603860 [^]
Update: April 29, 2019