Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Susceptibility to arteriovenous malformations of the brain

Susceptibility to arteriovenous malformations of the brain is influenced by autosomal dominant germline mutations of the IL6 gene and somatic mutations of the KRAS gene.

Systematic

Hereditary vascular disease
Arteriosclerosis
Diabetic microangiopathy 4
Hereditary Angioedema
Hereditary lymphedema
STING-associated vasculopathy with onset in infancy
Sneddon syndrome
Susceptibility to arteriovenous malformations of the brain
IL6
Thromboembolic diseases
Vascular calcification
Vasculitis due to ADA2 deficiency

References:

1.

Pawlikowska L et. al. (2004) Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations.

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2.

Chen Y et. al. (2006) Interleukin-6 involvement in brain arteriovenous malformations.

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3.

Snead OC et. al. (1979) Familial arteriovenous malformation.

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4.

Yokoyama K et. al. (1991) Familial occurrence of arteriovenous malformation of the brain.

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5.

Boyd MC et. al. (1985) Familial arteriovenous malformations. Report of four cases in one family.

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6.

Aberfeld DC et. al. (1981) Familial arteriovenous malformation of the brain.

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7.

Murphy PA et. al. (2008) Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice.

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8.

Chen Y et. al. (2009) Soluble endoglin modulates aberrant cerebral vascular remodeling.

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9.

Nikolaev SI et. al. (2018) Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

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Update: Aug. 14, 2020
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