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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.

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

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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.

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3.

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

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4.

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

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5.

None (1967) Medullary sponge kidney: its occurrence in a father and daughter.

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6.

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

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7.

None (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla.

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8.

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

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9.

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

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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.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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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17.

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

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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.

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19.

OMIM.ORG article

Omim 174000 external link
Update: Aug. 14, 2020
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