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last update : 11-04-2009
Symbol RTD1
Location 1q42.2
Name renal tubular dysgenesis 1
Corresponding gene AGT
Other symbol(s) RTD
Main clinical features
  • severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter sequence)
  • absence or paucity of differentiated proximal tubules
  • skull ossification defects.
  • Genetic determination autosomal recessive
    Related entries RTD1-4
    Function/system disorder
    Type disease
    Gene product
    Name angiotensinogen
    Remark(s) homozygous or compound heterozygous mutations in genes in the renin-angiotensin system