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GTR Home > Conditions/Phenotypes > LAMB2-related infantile-onset nephrotic syndrome

LAMB2-related infantile-onset nephrotic syndrome

Synonyms
NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES; NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES; Nephrotic syndrome, type 5, with or without ocular abnormalities

Summary

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). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Available tests

35 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LAMS, NPHS5, PIERS, LAMB2
    Summary: laminin subunit beta 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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