Disease or Syndrome
Pierson syndrome
Definitions related to pierson syndrome:
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An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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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). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental...National Center for Advancing Translational Sciences
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