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Pierson syndrome

Synonyms
MICROCORIA-CONGENITAL NEPHROTIC SYNDROME; Microcoria and congenital nephrotic syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 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

Help
Imported from Human Phenotype Ontology (HPO)

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