Denys-Drash syndrome
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| Denys-Drash syndrome Classification and external resources |
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| 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. The characteristics of DDS include loss of playfulness, loss of appetite, loss of sleep and the inability to urinate properly.
The causes 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. Symptoms of DDS include decreased activity, low weight, loss of growth, abnormal skeletal development, abdominal pain and severe constipation.
The Wilm's tumor suppressor gene, WT1, is on chromosome 11 (11p13).
[edit] See also
[edit] External links
[edit] References
- 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. PMID 4316066.
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