| H00928 | |
| H number | H00928 |
| Name | Nephropathy with pretibial epidermolysis bullosa and deafness |
| Description | Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis. |
| Category | Urinary system disease |
| Network | - |
| Gene | CD151 [HSA:977] [KO:K06537] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | MeSH: C563798 OMIM: 609057 |
| Reference | PMID:15265795 AUTHORS Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ TITLE CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. JOURNAL Blood 104:2217-23 (2004) DOI:10.1182/blood-2004-04-1512 PMID:17015618 AUTHORS Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A TITLE Kidney failure in mice lacking the tetraspanin CD151. JOURNAL J Cell Biol 175:33-9 (2006) DOI:10.1083/jcb.200603073 |