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GENATLAS PHENOTYPE

last update : 11-04-2009

Symbol	RTD4
Location	1q32.1
Name	renal tubular dysgenesis 4
Corresponding gene	REN
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
Type	disease

Gene product

Name

renin

Remark(s)

homozygous or compound heterozygous mutations in genes in the renin-angiotensin system