Medullary cystic kidney disease 1 is an autosomal dominant disorder caused by mutations of the MUC1 gene. It is characterized by renal cysts at the corticomedullary junction. The progression into renal failure is slow.
![]() |
||||
![]() |
![]() |
|||
![]() |
![]() |
![]() ![]() |
||
![]() |
![]() |
|||
![]() |
![]() |
![]() |
![]() |
![]() |
1. |
Kimmel RJ et al. (2005) Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. ![]() |
2. |
Stavrou C et al. (1998) Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. ![]() |
3. |
Christodoulou K et al. (1998) Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. ![]() |
4. |
Chamberlin BC et al. (1977) Juvenile nephronophthisis and medullary cystic disease. ![]() |
5. |
None (1967) Medullary sponge kidney: its occurrence in a father and daughter. ![]() |
6. |
Goldman SH et al. (1966) Hereditary occurrence of cystic disease of the renal medulla. ![]() |
7. |
None (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla. ![]() |
8. |
Rayfield EJ et al. (1972) Red and blonde hair in renal medullary cystic disease. ![]() |
9. |
Wrigley KA et al. (1973) Progressive hereditary nephropathy. A variant of medullary cystic disease? ![]() |
10. |
Wolf MT et al. (2006) Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. ![]() |
11. |
Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred. ![]() |
12. |
Wolf MT et al. (2004) Telomeric refinement of the MCKD1 locus on chromosome 1q21. ![]() |
13. |
ABESHOUSE BS et al. (1960) Sponge kidney: a review of the litrature and a report of five cases. ![]() |
14. |
Wolf MT et al. (2003) Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. ![]() |
15. |
Giangiacomo J et al. (1975) Medullary cystic disease vs nephronophthisis. A valid distinction? ![]() |
17. |
Ala-Mello S et al. () Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. ![]() |
18. |
Kirby A et al. (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. ![]() |
19. |
OMIM.ORG article Omim 174000![]() |