KEGG   DISEASE: Parkes Weber syndromeHelp
Entry
H00532                      Disease                                

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
Developmental disorder; Vascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00532  RASA1-related disorders
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
Gene
RASA1 [HSA:5921] [KO:K04352]
Other DBs
ICD-10: Q87.2
MeSH: D013341
OMIM: 608355
Reference
PMID:17670762 (description, gene)
  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
Reference
  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
Reference
PMID:14639529 (gene)
  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

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