" /> Capillary Malformation-Arteriovenous Malformation Syndrome - CISMeF





Preferred Label : Capillary Malformation-Arteriovenous Malformation Syndrome;

NCIt synonyms : CM-AVM; Capillary Malformation-Arteriovenous Malformation;

NCIt definition : An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure.;

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31/07/2025


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