RASA1 - Related Disorders  Genetics Home Reference

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.

The aim of this database is to record all known variants in the RASA1 gene and their clinical significance. The GenBank reference sequences NC_000005.9 and NM_002890.1 were used.

ARUP Laboratories offers full gene sequencing analysis of RASA1 (test 2002730) for patients with vascular lesions which suggest the possibility of a RASA1 mutation.

Database Information

The RASA1 database currently has 84 total entries.



Citations

When using this resource in publications please link to:

http://www.arup.utah.edu/database/RASA1/RASA1_welcome.php