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 | ||||
Medullary cystic kidney disease 1 | ||||
Medullary cystic kidney disease 2 | ||||
UMOD | ||||
1. |
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. |
2. |
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. |
3. |
Wolf MT et al. (2004) Telomeric refinement of the MCKD1 locus on chromosome 1q21. |
4. |
Scolari F et al. (1999) Identification of a new locus for medullary cystic disease, on chromosome 16p12. |
5. |
OMIM.ORG article Omim 603860 |