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Drash syndrome(DDS)

MedGen UID:
181980
Concept ID:
C0950121
Congenital Abnormality; Disease or Syndrome
Synonyms: DDS; Denys-Drash Syndrome; Nephropathy associated with male pseudohermaphroditism and Wilms' tumor; Nephropathy, wilms tumor, and genital anomalies; Pseudohermaphroditism, nephron disorder and Wilms' tumor; WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM; Wilms tumor and pseudohermaphroditism; WT1-Related Disorders
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
SNOMED CT: Nephrotic syndrome with pseudohermaphroditism (236385009); Drash syndrome (236385009); Wilms' tumor and nephrotic syndrome with pseudohermaphroditism (236385009)
 
Gene (location): WT1 (11p13)
OMIM®: 194080
Orphanet: ORPHA220

Definition

Denys-Drash syndrome is a condition that affects the kidneys and genitalia.Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys.Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile).Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.
[from GHR]

Clinical features

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDrash syndrome
Follow this link to review classifications for Drash syndrome in Orphanet.

Recent clinical studies

Etiology

Patel PR, Pappas J, Arva NC, Franklin B, Brar PC
J Pediatr Endocrinol Metab 2013;26(9-10):971-4. doi: 10.1515/jpem-2012-0409. PMID: 23729537
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
Motoyama O, Arai K, Kawamura T, Aikawa A, Ohara T, Iitaka K, Hasegawa A
Pediatr Int 2005 Dec;47(6):607-11. doi: 10.1111/j.1442-200x.2005.02139.x. PMID: 16354210
Kist-van Holthe JE, Ho PL, Stablein D, Harmon WE, Baum MA
Pediatr Transplant 2005 Jun;9(3):305-10. doi: 10.1111/j.1399-3046.2005.00311.x. PMID: 15910385
Kucinskas L, Rudaitis S, Pundziene B, Just W
Medicina (Kaunas) 2005;41(2):132-4. PMID: 15758579

Diagnosis

Hillen LM, Kamsteeg EJ, Schoots J, Tiebosch AT, Speel EJ, Roemen GM, Peutz-Koostra CJ, Stumpel CT
Fetal Pediatr Pathol 2016;35(2):112-9. Epub 2016 Feb 16 doi: 10.3109/15513815.2016.1139018. PMID: 26882358
Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E
Pediatrics 2014 Jan;133(1):e252-6. Epub 2013 Dec 30 doi: 10.1542/peds.2013-1524. PMID: 24379226
Patel PR, Pappas J, Arva NC, Franklin B, Brar PC
J Pediatr Endocrinol Metab 2013;26(9-10):971-4. doi: 10.1515/jpem-2012-0409. PMID: 23729537
da Silva TE, Nishi MY, Costa EM, Martin RM, Carvalho FM, Mendonca BB, Domenice S
Pediatr Nephrol 2011 Aug;26(8):1311-5. Epub 2011 May 11 doi: 10.1007/s00467-011-1847-4. PMID: 21559934
Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC
Curr Opin Pediatr 2008 Feb;20(1):103-6. doi: 10.1097/MOP.0b013e3282f357eb. PMID: 18197048

Therapy

Wasilewska AM, Kuroczycka-Saniutycz E, Zoch-Zwierz W
Eur J Pediatr 2011 Mar;170(3):389-91. Epub 2010 Sep 17 doi: 10.1007/s00431-010-1278-4. PMID: 20848129Free PMC Article
Ammari AB, Fung DE
Eur Arch Paediatr Dent 2007 Dec;8(4):219-23. PMID: 18076855
Bydder S, Charles A, Hewitt I, Walpole I, Algar EM, Smith N, Phillips MB
Transplant Proc 2002 Dec;34(8):3203-4. PMID: 12493420
Ferrari A, Perotti D, Giardini R, Ghio L, Riva S, Massimino M
J Pediatr Hematol Oncol 1997 Mar-Apr;19(2):151-5. PMID: 9149747
Borel F, Barilla KC, Hamilton TB, Iskandar M, Romaniuk PJ
Biochemistry 1996 Sep 17;35(37):12070-6. doi: 10.1021/bi960758o. PMID: 8810912

Prognosis

Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E
Pediatrics 2014 Jan;133(1):e252-6. Epub 2013 Dec 30 doi: 10.1542/peds.2013-1524. PMID: 24379226
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
Furtado LV, Pysher T, Opitz J, Lamb R, Comstock J, Batish S, Mauch T, Nelson R, Zhou H
Fetal Pediatr Pathol 2011;30(4):266-72. Epub 2011 Mar 24 doi: 10.3109/15513815.2011.555814. PMID: 21434831
Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S
J Pediatr Hematol Oncol 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. PMID: 20562648
Kist-van Holthe JE, Ho PL, Stablein D, Harmon WE, Baum MA
Pediatr Transplant 2005 Jun;9(3):305-10. doi: 10.1111/j.1399-3046.2005.00311.x. PMID: 15910385

Clinical prediction guides

Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E
Pediatrics 2014 Jan;133(1):e252-6. Epub 2013 Dec 30 doi: 10.1542/peds.2013-1524. PMID: 24379226
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
Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S
J Pediatr Hematol Oncol 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. PMID: 20562648
Gao F, Maiti S, Sun G, Ordonez NG, Udtha M, Deng JM, Behringer RR, Huff V
Mol Cell Biol 2004 Nov;24(22):9899-910. doi: 10.1128/MCB.24.22.9899-9910.2004. PMID: 15509792Free PMC Article
Yang AH, Chen JY, Chen BF
Virchows Arch 2004 Sep;445(3):305-14. Epub 2004 Jul 1 doi: 10.1007/s00428-004-1069-2. PMID: 15232745

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