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non-syndromal renal hypodysplasia

MIM.610805

Friday 9 February 2007

Renal hypodyspasia associates bilateral non-obstructive renal dysplasia (BNORD) and bilateral non-obstructive renal hypoplasia(BNORH).

Renal hypodysplasia is characterized by a decrease in nephron number, a small overall kidney size, and a maldeveloped renal tissue.

It is a leading cause of chronic renal failure in young children.

Familial clustering and renal hypodysplasia phenotypes observed in transgenic animal models suggest a genetic contribution.

Types

- autosomal dominant nonsyndromic renal hypodysplasia (16998226)

Etiology

- Locus at 1p32-33 (17273976)
- Mutations in UPIIIA coding for uroplakin IIIA (16731295)

See also

- renal hypodysplasia

  • syndromal renal hypodysplasia

References

- Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet. 2007 Mar;80(3):539-49. PMID: 17273976

- Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS. Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant. 2007 Jan;22(1):259-63. PMID: 16998226

- Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006 Jun;47(6):1004-12. PMID: 16731295

- Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS. Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant. 2007 Jan;22(1):259-63. PMID: 16998226

- Woolf AS. Renal hypoplasia and dysplasia: starting to put the puzzle together. J Am Soc Nephrol. 2006 Oct;17(10):2647-9. PMID: 16959822