H00532 | |
H number | H00532 |
Name | Parkes Weber syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | RASA1 [HSA:5921] [KO:K04352] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD26.60 ICD-10: Q87.2 MeSH: D013341 OMIM: 608355 |
Reference | PMID:17670762 AUTHORS Brouillard P, Vikkula M TITLE Genetic causes of vascular malformations. JOURNAL Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:18446851 AUTHORS 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 TITLE Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. JOURNAL Hum Mutat 29:959-65 (2008) DOI:10.1002/humu.20746 PMID:14639529 AUTHORS Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M TITLE Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. JOURNAL Am J Hum Genet 73:1240-9 (2003) DOI:10.1086/379793 |