| H00576 | |
| H number | H00576 |
| Name | Pierson syndrome |
| Description | Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane. |
| Category | Urinary system disease |
| Network | - |
| Gene | LAMB2 [HSA:3913] [KO:K06243] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB41 ICD-10: N04.9 MeSH: C537185 OMIM: 609049 |
| Reference | PMID:20969579 AUTHORS Benoit G, Machuca E, Heidet L, Antignac C TITLE Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. JOURNAL Ann N Y Acad Sci 1214:83-98 (2010) DOI:10.1111/j.1749-6632.2010.05817.x PMID:16864643 AUTHORS VanDeVoorde R, Witte D, Kogan J, Goebel J TITLE Pierson syndrome: a novel cause of congenital nephrotic syndrome. JOURNAL Pediatrics 118:e501-5 (2006) DOI:10.1542/peds.2005-3154 PMID:18094725 AUTHORS Gubler MC TITLE Inherited diseases of the glomerular basement membrane. JOURNAL Nat Clin Pract Nephrol 4:24-37 (2008) DOI:10.1038/ncpneph0671 PMID:21071975 AUTHORS Kashtan CE, Segal Y TITLE Genetic disorders of glomerular basement membranes. JOURNAL Nephron Clin Pract 118:c9-c18 (2011) DOI:10.1159/000320876 |