KEGG   DISEASE: H00576Help
Entry
H00576                      Disease                                

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
Developmental disorder; Kidney disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
LAMB2 [HSA:3913] [KO:K06243]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20969579 (gene, description)
  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)
Reference
PMID:16864643 (description)
  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)
Reference
PMID:18094725 (gene, description)
  Authors
Gubler MC
  Title
Inherited diseases of the glomerular basement membrane.
  Journal
Nat Clin Pract Nephrol 4:24-37 (2008)
Reference
PMID:21071975 (gene, description)
  Authors
Kashtan CE, Segal Y
  Title
Genetic disorders of glomerular basement membranes.
  Journal
Nephron Clin Pract 118:c9-c18 (2011)

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