KEGG   DISEASE: H00532Help
Entry
H00532                      Disease                                

Name
RASA1-related disorders, including:
Parkes-Weber slndrome;
Capillary malformation-arteriovenous malformation (CM-AVM);
Arteriovenous fistula (AVF)
Description
These RASA1-related disorders are conditions with atypical cutaneous capillary malformations localized on the face and limbs. Some patients have fast-flow vascular lesion with directly connected arteries and veins.
Category
Developmental disorder; Vascular disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Gene
RASA1 [HSA:5921] [KO:K04352]
Other DBs
OMIM: 
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)
Reference
PMID:21348050 (description, gene)
  Authors
Bayrak-Toydemir P, Stevenson D
  Title
RASA1-Related Disorders
  Journal
(1993)

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