KEGG DISEASE: Parkes Weber syndrome

DISEASE: Parkes Weber syndrome

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

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00532  Parkes Weber syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00532  Parkes Weber syndrome

Pathway

hsa04010

MAPK signaling pathway

Network

nt06526 MAPK signaling

Gene

RASA1 [HSA:5921] [KO:K04352]

Other DBs

ICD-11:

LD26.60

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

Reference

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

Reference

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
All databases (1)   

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