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renal tubular dysgenesis
Pathology:
- severe disorder of renal tubular development
- pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype)
Genetics:
- autosomal recessive
- associated with defects in AGTR1
- associated with defects in renin
Clinical manifestations:
- persistent fetal anuria
- perinatal death
General
congenital anomaly (birth defect)
genetic disease of the kidney
renal tubular disease
Database Correlations
OMIM 267430
References
UniProt :accession P30556