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Denys-Drash Syndrome, Incomplete

MedGen UID:
885368
•Concept ID:
C4055156
•
Disease or Syndrome

Definition

Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDenys-Drash Syndrome, Incomplete

Recent clinical studies

Etiology

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
Falcone MP, Pritchard-Jones K, Brok J, Mifsud W, Williams RD, Nakata K, Tugnait S, Al-Saadi R, Side L, Anderson J, Duncan C, Marks SD, Bockenhauer D, Chowdhury T
Pediatr Nephrol 2022 Apr;37(4):821-832. Epub 2021 Oct 4 doi: 10.1007/s00467-021-05125-5. PMID: 34608521Free PMC Article
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.
Akramov NR, Shavaliev RF, Osipova IV
Medicine (Baltimore) 2021 May 14;100(19):e25864. doi: 10.1097/MD.0000000000025864. PMID: 34106634Free PMC Article
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y
Ren Fail 2011;33(9):910-4. Epub 2011 Aug 18 doi: 10.3109/0886022X.2011.605528. PMID: 21851196
Evolutive study of children with diffuse mesangial sclerosis.
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. PMID: 19066977
Denys-Drash syndrome.
Kucinskas L, Rudaitis S, Pundziene B, Just W
Medicina (Kaunas) 2005;41(2):132-4. PMID: 15758579

Diagnosis

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
Falcone MP, Pritchard-Jones K, Brok J, Mifsud W, Williams RD, Nakata K, Tugnait S, Al-Saadi R, Side L, Anderson J, Duncan C, Marks SD, Bockenhauer D, Chowdhury T
Pediatr Nephrol 2022 Apr;37(4):821-832. Epub 2021 Oct 4 doi: 10.1007/s00467-021-05125-5. PMID: 34608521Free PMC Article
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.
Akramov NR, Shavaliev RF, Osipova IV
Medicine (Baltimore) 2021 May 14;100(19):e25864. doi: 10.1097/MD.0000000000025864. PMID: 34106634Free PMC Article
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y
Ren Fail 2011;33(9):910-4. Epub 2011 Aug 18 doi: 10.3109/0886022X.2011.605528. PMID: 21851196
Evolutive study of children with diffuse mesangial sclerosis.
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. PMID: 19066977
Denys-Drash syndrome.
Kucinskas L, Rudaitis S, Pundziene B, Just W
Medicina (Kaunas) 2005;41(2):132-4. PMID: 15758579

Prognosis

Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.
Karmila AB, Yap YC, Appadurai M, Oh L, Fazarina M, Abd Ghani F, Ariffin H
Fetal Pediatr Pathol 2021 Apr;40(2):113-120. Epub 2019 Nov 9 doi: 10.1080/15513815.2019.1686788. PMID: 31707902
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y
Ren Fail 2011;33(9):910-4. Epub 2011 Aug 18 doi: 10.3109/0886022X.2011.605528. PMID: 21851196
Evolutive study of children with diffuse mesangial sclerosis.
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. PMID: 19066977
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?
Schmitt K, Zabel B, Tulzer G, Eitelberger F, Pelletier J
Eur J Pediatr 1995 Jul;154(7):577-81. doi: 10.1007/BF02074838. PMID: 7556327
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.
Bardeesy N, Zabel B, Schmitt K, Pelletier J
Genomics 1994 Jun;21(3):663-4. doi: 10.1006/geno.1994.1333. PMID: 7959750

Clinical prediction guides

Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.
Karmila AB, Yap YC, Appadurai M, Oh L, Fazarina M, Abd Ghani F, Ariffin H
Fetal Pediatr Pathol 2021 Apr;40(2):113-120. Epub 2019 Nov 9 doi: 10.1080/15513815.2019.1686788. PMID: 31707902
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y
Ren Fail 2011;33(9):910-4. Epub 2011 Aug 18 doi: 10.3109/0886022X.2011.605528. PMID: 21851196
WT1 and glomerular diseases.
Niaudet P, Gubler MC
Pediatr Nephrol 2006 Nov;21(11):1653-60. Epub 2006 Aug 23 doi: 10.1007/s00467-006-0208-1. PMID: 16927106
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.
Bardeesy N, Zabel B, Schmitt K, Pelletier J
Genomics 1994 Jun;21(3):663-4. doi: 10.1006/geno.1994.1333. PMID: 7959750
Inherited WT1 mutation in Denys-Drash syndrome.
Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BR
Cancer Res 1992 Nov 1;52(21):6125-8. PMID: 1327525

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