Denys–Drash syndrome


Denys–Drash syndrome
Denys–Drash syndrome
Classification and external resources
OMIM 194080
DiseasesDB 31499
eMedicine ped/564
MeSH C04.557.435.595.220

Denys-Drash syndrome is a syndrome characterized by the following conditions:

Denys-Drash Syndrome (DDS) is a very rare disorder.

Contents

Etiology

The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These abnormalities include changes in certain exons (9 and 8) and mutations in some alleles of the WT1 gene. Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, is on chromosome 11 (11p13). These mutations are usually found in exons 8 or 9 but at least one has been reported in exon 4.[1]

Presentation and clinical course

The presenting characteristics of DDS include loss of playfulness, decreased appetite, weight loss, growth delay, abnormal skeletal development, insomnia, abdominal pain, constipation, and anuria.

Clinically, Denys-Drash is characterized by the triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms tumor. The condition first manifests as early nephrotic syndrome and progresses to mesangial renal sclerosis and ultimately renal failure, usually within the first three years of life.

See also

External links

References

  1. ^ da Silva TE, Nishi MY, Costa EM, et al. (August 2011). "A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome". Pediatr. Nephrol. 26 (8): 1311–5. doi:10.1007/s00467-011-1847-4. PMID 21559934. 
  • Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967). "[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]" (in French). Arch. Fr. Pediatr. 24 (7): 729–739. PMID 4292870. 
  • Drash A, Sherman F, Hartmann WH, Blizzard RM (1970). "A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease". J. Pediatr. 76 (4): 585–593. doi:10.1016/S0022-3476(70)80409-7. PMID 4316066. 

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Look at other dictionaries:

  • Denys-Drash syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31499 ICD10 = ICD9 = ICDO = OMIM = 194080 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 564 MeshName = Denys Drash+Syndrome MeshNumber = C04.557.435.595.220 Denys Drash syndrome is a… …   Wikipedia

  • Denys-Drash syndrome — DDS. A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms’ tumor (a type of kidney cancer). Children with Denys Drash syndrome are also at high risk of some other types of… …   English dictionary of cancer terms

  • Denys-Drash syndrome — Den·ys Drash syndrome (denґis drash) [Joseph Denys, Belgian bacteriologist, 1857–1932; Allan Lee Drash, American pediatrician, born 1931] see under syndrome …   Medical dictionary

  • Denys-Drash syndrome — a rare syndrome that includes male pseudohermaphroditism, nephropathy leading to renal failure, and, in most cases, Wilms tumor. It is caused by a genetic abnormality in the p13 region of chromosome 11 …   Medical dictionary

  • Syndrome de denys-drash — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Syndrome de Denys-Drash — Référence MIM 194080 Transmission Dominante Chromosome 11p13 Gène WT1 Mutation Ponctuelle …   Wikipédia en Français

  • Drash syndrome — Denys Drash s …   Medical dictionary

  • Denys-Drash-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert[1] …   Deutsch Wikipedia

  • Denys — may refer to: People with the given name Denys: Denys Andriyenko (born 1980), Ukrainian footballer Denys Arcand (born 1941), Canadian film director, screenwriter and producer Denys Baptiste (born 1969), jazz musician Denys Bouliane (born 1955),… …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary


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