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GENATLAS PHENOTYPE
last update : 21-04-2010
Symbol IDMS
Location 11p13
Name nephrotic syndrome with an isolated diffuse or, rarely, a focal segmental mesangial sclerosis
Other name(s)
  • mesangial sclerosis, familial
  • mesangial sclerosis, isolated diffuse
  • Corresponding gene WT1
    Other symbol(s) DMS
    Main clinical features
  • onset in infancy of asymptomatic proteinuria with subsequent development of the nephrotic syndrome and progression to renal failure and death before the age of 3 years, at renal histopathology, infantile mesangial sclerosis
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name Wilms tumor protein (WT1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     most mutations in exons 8 and 9, ZF domain as in DDS
    Remark(s)