| 1 | GCKD2, MCKD2, UMOD
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| Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
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| Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT.
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| Hum Mol Genet 19(10):1985-97. Epub 2010 Feb 18. 2010
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| 2 | FJHN, MCKD2, UMOD
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| The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
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| Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F.
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| Kidney Int 71(6):574-81. Epub 2007 Jan 24.
2007
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| 3 | MCKD2, UMOD, FJHN
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| Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.
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| Rezende-Lima W, Parreira KS, Garcia-Gonzalez M, Riveira E, Banet JF, Lens XM.
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| Kidney Int 66(2):558-63. 2004
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| 4 | UMOD, MCKD2
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| Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
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| Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F.
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| Kidney Int 64(5):1580-7. 2003
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| 5 | GCKD2, MCKD2, UMOD
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| Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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| Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G.
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| Hum Mol Genet 12(24):3369-84. Epub 2003 Oct 21.PMID: 14570709 2003
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| 6 | FJHN, MCKD2, UMOD
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| Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
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| Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.
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| J Med Genet 39(12):882-92. 2002
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| 7 | MCKD2
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| Identification of a new locus for medullary cystic disease, on chromosome 16p12.
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| Scolari F, et al.
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| Am J Hum Genet 64(6):1655-60. 1999
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