Capillary malformation-arteriovenous malformation

Common Name(s)

Capillary malformation-arteriovenous malformation

Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder characterized by multiple CMs in association with fast-flow vascular malformations. The CMs are usually multifocal, often surrounded by a pale halo with a central red dot, and increase in number with age. The AVMs may be intracranial, including vein of Galen aneurysmal malformations, or occur on the spine, face, or an extremity (summary by {5:Revencu et al., 2013}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Capillary malformation-arteriovenous malformation" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Capillary malformation-arteriovenous malformation" returned 3 free, full-text research articles on human participants. First 3 results:

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
 

Author(s): Ren Cai, Fatao Liu, Chen Hua, Zhang Yu, Michele Ramien, Claudia Malic, Wenxin Yu, Xiaolin Zhang, Yun Liu, Yunbo Jin, Xun Hu, Xiaoxi Lin

Journal:

 

Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely ...

Last Updated: 31 Dec 1969

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[Capillary malformation-arteriovenous malformation syndrome].
 

Author(s): M Galán-Gutiérrez, R Ruiz-Villaverde

Journal: An Pediatr (Barc). 2013 Dec;79(6):374-6.

 

Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant condition in which multifocal capillary malformations and arteriovenous fistulas form in different organs. RASopathies include a set of common syndromes that have mutations on the Ras/MAPK pathway. ...

Last Updated: 31 Dec 1969

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

Author(s): Iiro Eerola, Laurence M Boon, John B Mulliken, Patricia E Burrows, Anne Dompmartin, Shoji Watanabe, Romain Vanwijck, Miikka Vikkula

Journal: Am. J. Hum. Genet.. 2003 Dec;73(6):1240-9.

 

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 ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Capillary malformation-arteriovenous malformation" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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