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renal tubular dysgenesis

Disease Summary
Associated Targets (4)
Tclin

3

Tbio

1


GARD Rare
Mondo Description Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.
Uniprot Description Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).
Mondo Term and Equivalent IDs
MONDO:0017609:  renal tubular dysgenesis
GARD:0000379: 
Orphanet:3033: 
SCTID:702397002: