The RASA1 gene (located on chromosome 5q) encodes Ras p21 protein activator 1. Mutations in RASA1 have been associated with a variable phenotype which includes capillary malformations-arteriovenous malformations (CM-AVM) ( OMIM #608354) and Parkes Weber syndrome (PKWS) (OMIM #608355). Intracranial, cutaneous, subcutaneous, intramuscular and intraosseous AVMs have all been described in patients with RASA1 mutations.
Capillary malformations (CM) tend to be small, round to oval, multiple, pinkish and geographic and are often characterized by a surrounding white halo, not typical for telangiectases or capillary malformations seen in other syndromes or in sporadic cases.
ARUP Laboratories offers full gene sequencing analysis of RASA1 (test 2002730) for patients with vascular lesions which suggest the possibility of a RASA1 mutation.
The RASA1 database currently has 84 total entries.
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