| H00928 | |
| H番号 | H00928 |
| 名称 | 前脛骨表皮水泡症と難聴を伴う腎症 |
| 概要 | 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. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CD151 [HSA:977] [KO:K06537] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | MeSH: C563798 OMIM: 609057 |
| 文献 | PMID:15265795 著者 Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ タイトル 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. 雑誌 Blood 104:2217-23 (2004) DOI:10.1182/blood-2004-04-1512 PMID:17015618 著者 Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A タイトル Kidney failure in mice lacking the tetraspanin CD151. 雑誌 J Cell Biol 175:33-9 (2006) DOI:10.1083/jcb.200603073 |