| H00582 | |
| H number | H00582 |
| 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 | Urinary system disease |
| Network | - |
| Gene | COL4A3 [HSA:1285] [KO:K06237] COL4A4 [HSA:1286] [KO:K06237] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB4Y MeSH: C562476 OMIM: 141200 |
| Reference | 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 PMID:12969134 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) DOI:10.1046/j.1523-1755.2003.00234.x |