Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Medullary cystic kidney disease 1

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.

Systematic

Medullary cystic kidney disease
Medullary cystic kidney disease 1
MUC1
Medullary cystic kidney disease 2

References:

1.

Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred.

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2.

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.

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3.

Ala-Mello S et al. () Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

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4.

Fuchshuber A et al. (2001) Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

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5.

Giangiacomo J et al. (1975) Medullary cystic disease vs nephronophthisis. A valid distinction?

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6.

Wolf MT et al. (2003) Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.

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7.

ABESHOUSE BS et al. (1960) Sponge kidney: a review of the litrature and a report of five cases.

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8.

Wolf MT et al. (2004) Telomeric refinement of the MCKD1 locus on chromosome 1q21.

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9.

Kimmel RJ et al. (2005) Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family.

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10.

Wolf MT et al. (2006) Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

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11.

Wrigley KA et al. (1973) Progressive hereditary nephropathy. A variant of medullary cystic disease?

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12.

Rayfield EJ et al. (1972) Red and blonde hair in renal medullary cystic disease.

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13.

Gardner KD et al. (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla.

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14.

Goldman SH et al. (1966) Hereditary occurrence of cystic disease of the renal medulla.

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15.

Copping GA et al. (1967) Medullary sponge kidney: its occurrence in a father and daughter.

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16.

Chamberlin BC et al. (1977) Juvenile nephronophthisis and medullary cystic disease.

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17.

Christodoulou K et al. (1998) Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

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18.

Stavrou C et al. (1998) Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

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Update: Sept. 26, 2018