KEGG   DISEASE: H00582Help
Entry
H00582                      Disease                                

Name
Benign familial hematuria;
Thin basement membrane nephropathy
Description
Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.
Category
Kidney disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
COL4A3 [HSA:1285] [KO:K06237]
COL4A4 [HSA:1286] [KO:K06237]
Other DBs
MeSH: 
OMIM: 
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)
Reference
PMID:12969134 (description)
  Authors
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY
  Title
Thin basement membrane nephropathy.
  Journal
Kidney Int 64:1169-78 (2003)

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