| H00532 | |
| H番号 | H00532 |
| 名称 | パークスウェーバー症候群 |
| 概要 | Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RASA1 [HSA:5921] [KO:K04352] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.60 ICD-10: Q87.2 MeSH: D013341 OMIM: 608355 |
| 文献 | PMID:17670762 著者 Brouillard P, Vikkula M タイトル Genetic causes of vascular malformations. 雑誌 Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:18446851 著者 Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M タイトル Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 雑誌 Hum Mutat 29:959-65 (2008) DOI:10.1002/humu.20746 PMID:14639529 著者 Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M タイトル Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 雑誌 Am J Hum Genet 73:1240-9 (2003) DOI:10.1086/379793 |