Denys–Drash syndrome

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 kidney failure—usually within the first three years of life.Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, which is on chromosome 11 (11p13).[2] The condition can be inherited in an autosomal dominant pattern, but most cases occur due to new genetic mutations in people with no family history of the disorder.[1] A 1994 review of 150 cases reported in the literature found that 38% had died with a mean age of death of 2 years.

SpecialtyOncologyendocrinologyurologyobstetrics and gynaecologymedical geneticssyndromegonadal dysgenesisnephropathyWilms' tumorpseudohermaphroditismmesangialnephrotic syndromekidney failuregrowth delayinsomniaconstipationanuriachromosome 11Allan L. DrashBeckwith–Wiedemann syndromeWAGR syndromeDrash ABlizzard RMJ. Pediatr.DiseasesDBeMedicineOrphanetGenetic disorderstranscription factorFeingold syndromeSaethre–Chotzen syndromeTietz syndromeIntracellular receptorThyroid hormone resistanceAndrogen insensitivity syndromeKennedy's diseasePHA1AD pseudohypoaldosteronismEstrogen insensitivity syndromeX-linked adrenal hypoplasia congenitaMODY 1Familial partial lipodystrophy 3SF1 XY gonadal dysgenesisBarakat syndromeTricho–rhino–phalangeal syndromeGreig cephalopolysyndactyly syndromePallister–Hall syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Nail–patella syndromeTooth and nail syndromeAxenfeld syndrome 1POU4F3DFNA15POU3F4Posterior polymorphous corneal dystrophyFuchs' dystrophy 3Mowat–Wilson syndromePapillorenal syndromeWaardenburg syndrome 1&3MODY 9Gillespie syndromeColoboma of optic nerveCongenital hypothyroidism 2STHAG3Axenfeld syndrome 3Iridogoniodysgenesis, dominant typeLymphedema–distichiasis syndromeBamforth–Lazarus syndromeAnterior segment mesenchymal dysgenesisACD/MPVEnlarged vestibular aqueductPremature ovarian failure 3Van der Woude syndromePopliteal pterygium syndromeHyperimmunoglobulin E syndromeHolt–Oram syndromeLi–Fraumeni syndromeUlnar–mammary syndromeCampomelic dysplasiaMODY 3MODY 5SRY XY gonadal dysgenesisPremature ovarian failure 7Waardenburg syndrome 4cYemenite deaf-blind hypopigmentation syndromeCleidocranial dysostosisKabuki syndromePitt–Hopkins syndromeRapp–Hodgkin syndromeHay–Wells syndromeEctrodactyly–ectodermal dysplasia–cleft syndrome 3Limb–mammary syndromeTranscription coregulatorsCREBBPRubinstein–Taybi syndromeAtrichia with papular lesions