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GENATLAS PHENOTYPE

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