RGD Reference Report - Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. - Rat Genome Database

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Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Authors: Eerola, I  Boon, LM  Mulliken, JB  Burrows, PE  Dompmartin, A  Watanabe, S  Vanwijck, R  Vikkula, M 
Citation: Eerola I, etal., Am J Hum Genet 2003 Dec;73(6):1240-9.
RGD ID: 734495
Pubmed: PMID:14639529   (View Abstract at PubMed)
PMCID: PMC1180390   (View Article at PubMed Central)
DOI: DOI:10.1086/379793   (Journal Full-text)

Capillary malformation (CM), or "port-wine stain," is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations "CM-AVM," for capillary malformation-arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Capillary Malformation-Arteriovenous Malformation susceptibilityIAGP 734495DNA:mutations:multiple (human)RGD 
Capillary Malformation-Arteriovenous Malformation susceptibilityISORASA1 (Homo sapiens)734495; 734495DNA:mutations:multiple (human)RGD 
Port-Wine Stain  IAGP 734495DNA:mutations:exons:multiple (human)RGD 
Port-Wine Stain  ISORASA1 (Homo sapiens)734495; 734495DNA:mutations:exons:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Nevus flammeus  IAGP 734495 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Rasa1  (RAS p21 protein activator 1)

Genes (Mus musculus)
Rasa1  (RAS p21 protein activator 1)

Genes (Homo sapiens)
RASA1  (RAS p21 protein activator 1)


Additional Information