GTR Home > Conditions/Phenotypes > Parkes Weber syndrome

Disease characteristics

Excerpted from the GeneReview: RASA1-Related Disorders
RASA1-related disorders are characterized by the presence of multiple, small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. About 30% of affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs seem to occur early in life. Several individuals with a RASA1 mutation have the clinical diagnosis of Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft tissue and skeletal growth of an affected limb).

Associated genes

  • Also known as: CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP, RASA1
    Summary: RAS p21 protein activator (GTPase activating protein) 1

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