MeSH Browser

MeSH Supplementary: Pierson syndrome
Unique ID: C537185
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537185
Entry Term(s): Microcoria and congenital nephrotic syndrome; Microcoria-Congenital Nephrotic Syndrome; Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Previous Indexing: ABNORMALITIES, MULTIPLE (2010-2019); *EYE ABNORMALITIES (2010-2019)
Heading Mapped to: *Nephrotic Syndrome; *Pupil Disorders; *Myasthenic Syndromes, Congenital
Frequency: 40
Note: A hereditary autosomal recessive disorder characterized by congenital nephrotic syndrome with diffuse SCLEROSIS of the GLOMERULAR MESANGIUM and distinct ocular abnormalities, including microcoria (narrowing of the pupil) and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die in infancy, and those who survive tend to show neurodevelopmental delay and visual loss. Mutations in the LAMB2 gene have been identified. OMIM: 150325
Date of Entry: 2010/08/25
Revision Date: 2019/02/22

Pierson syndrome MeSH Supplementary Concept Data 2024