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References OMIM Gene GeneReviews HGMD HGNC
last update : 26/09/2007
Symbol RTD3
Location 3q24
Name renal tubular dysgenesis 3
Corresponding gene AGTR1
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
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name angiotensin II receptor, type 1
    Remark(s) homozygous or compound heterozygous mutations in genes in the renin-angiotensin system