MedGen

Nephrotic syndrome type 5 (NPHS5) is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006). Mutation in the LAMB2 gene can also cause Pierson syndrome (609049), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). [from OMIM]