H00464 | |
H number | H00464 |
Name | Nail-patella syndrome |
Description | Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia. |
Category | Congenital malformation |
Network | - |
Gene | LMX1B [HSA:4010] [KO:K09371] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.J0 ICD-10: Q87.2 MeSH: D009261 OMIM: 161200 |
Reference | PMID:12215822 AUTHORS Bongers EM, Gubler MC, Knoers NV TITLE Nail-patella syndrome. Overview on clinical and molecular findings. JOURNAL Pediatr Nephrol 17:703-12 (2002) DOI:10.1007/s00467-002-0911-5 PMID:11175791 AUTHORS Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B TITLE Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. JOURNAL Nat Genet 27:205-8 (2001) DOI:10.1038/84853 |