Capillary Malformation-Arteriovenous Malformation

Congenital capillary and arteriovenous anomalies associated with Port-Wine-Stain. Caused by mutations in the P120 GTPASE ACTIVATING PROTEIN (RASA1) gene. OMIM: 608354

Also Known As:

Capillary Malformation Without Arteriovenous Malformation; Capillary Malformation-Arteriovenous Malformation Syndrome; Cm-Avm; Cm-Avm Capillary malformation-arteriovenous malformation syndrome; Cmavm Capillary malformation arteriovenous malformation syndrome

Networked: 14 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Capillary Malformation-Arteriovenous Malformation
2.	Arteriovenous Malformations (Arteriovenous Malformation)
3.	Vascular Malformations
4.	Port-Wine Stain (Nevus Flammeus)
5.	Hereditary Hemorrhagic Telangiectasia

Experts

1.	Chen, Di: 2 articles (01/2022 - 06/2017)
2.	King, Philip D: 2 articles (01/2022 - 06/2017)
3.	Ameduri, Rebecca: 1 article (03/2022)
4.	Boull, Christina: 1 article (03/2022)
5.	Flanagan, Siobhan: 1 article (03/2022)
6.	Maguiness, Sheilagh: 1 article (03/2022)
7.	McGough, Erin: 1 article (03/2022)
8.	Murati, Michael: 1 article (03/2022)
9.	Nicholson, Cynthia L: 1 article (03/2022)
10.	Weigel, Brenda: 1 article (03/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Capillary Malformation-Arteriovenous Malformation:

1.	Indicators and Reagents (Reagents)IBA 12/01/2010 - "This study determined if cutaneous CM are a significant indicator of CM-AVM in children with cerebral bleeds. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2020 - "Wilms tumour 1 protein was positive in the endothelial cells both in pink macules of the CM-AVM and in arteriovenous malformations. " 05/01/2019 - "Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein." 02/07/2018 - "Patients with an inherited autosomal-dominant disorder, capillary malformation-arteriovenous malformation (CM-AVM), frequently have mutations in Ras P21 protein activator 1 (RASA1). " 01/01/2018 - "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. " 05/01/2008 - "Recently a rare form of hereditary vascular malformation termed capillary malformation-arteriovenous malformation (CM-AVM) was shown to be caused by heterozygous mutations in RASA1, encoding RAS p21 protein activator 1. CM-AVM is characterized by multiple, small CMs associated with either AVM or arteriovenous fistula (AVF) in affected individuals or at least one of their family members. "
3.	TIE-2 Receptor (Receptor, TIE 2)IBA 08/01/2006 - "However, due to detailed analysis inherited forms have been observed, which has led to identify mutations in three genes causing familial vascular malformations: in the angiopoietin receptor TIE2 in mucocutaneous venous malformations (VMCM), in glomulin in glomuvenous malformations (GVM) and in RASA1 in the newly recognized phenotype capillary malformation-arteriovenous malformation (CM-AVM). "
4.	AngiopoietinsIBA 08/01/2006 - "However, due to detailed analysis inherited forms have been observed, which has led to identify mutations in three genes causing familial vascular malformations: in the angiopoietin receptor TIE2 in mucocutaneous venous malformations (VMCM), in glomulin in glomuvenous malformations (GVM) and in RASA1 in the newly recognized phenotype capillary malformation-arteriovenous malformation (CM-AVM). "
5.	EphrinsIBA 01/01/2022 - "Capillary malformation-arteriovenous malformation (CM-AVM) is a blood vascular anomaly caused by inherited loss-of-function mutations in RASA1 or EPHB4 genes, which encode p120 Ras GTPase-activating protein (p120 RasGAP/RASA1) and Ephrin receptor B4 (EPHB4). "
6.	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 03/01/2022 - "Here, we describe a case report of a 16-year-old woman with CM-AVM syndrome and significant cardiac compromise successfully treated with trametinib, a mitogen-activated protein kinase (MEK) inhibitor."
7.	Mitogen-Activated Protein KinasesIBA 03/01/2022 - "Here, we describe a case report of a 16-year-old woman with CM-AVM syndrome and significant cardiac compromise successfully treated with trametinib, a mitogen-activated protein kinase (MEK) inhibitor."
8.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 09/01/2017 - "We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. "
9.	GTP-Binding Proteins (G-Protein)IBA 06/30/2017 - "Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. "
10.	ras ProteinsIBA 01/01/2022 - "Capillary malformation-arteriovenous malformation (CM-AVM) is a blood vascular anomaly caused by inherited loss-of-function mutations in RASA1 or EPHB4 genes, which encode p120 Ras GTPase-activating protein (p120 RasGAP/RASA1) and Ephrin receptor B4 (EPHB4). "

Therapies and Procedures

Dye Lasers

03/01/2020 - "In this study, we have treated capillary stains in five CM-AVM patients with pulsed dye laser, with improvement and without worsening or recurrence of the lesions after 1 year of clinical and ultrasound follow-up."
11/01/2021 - "Treatment of capillary malformations in capillary malformation-arteriovenous malformation syndrome with pulsed dye laser."
03/01/2020 - "Good response to pulsed dye laser in patients with capillary malformation-arteriovenous malformation syndrome (CM-AVM)."