|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary and brain AVMs were predominantly observed in HHT1 while hepatic AVMs were detected in HHT2.
|
24196379 |
2014 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with HHT Type 1 (HHT1) had a significantly higher brain AVM prevalence (13.4%, 95% CI 9.5%-17.4%) compared with those with HHT Type 2 (HHT2) (2.4%, 95% CI 1.0%-3.8%) (p < 0.0001).
|
27767404 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 135 consecutive adult patients were subjected to mutational screening in ENG and ALK1 genes and instrumental tests to detect AVMs, such as chest-abdomen multislice computed tomography (MDCT), brain magnetic resonance imaging and magnetic resonance angiography (MRI/MRA), upper endoscopy, were offered to all patients, independent of presence of clinical symptoms.
|
17388964 |
2007 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.
|
16542389 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss of activin receptor-like kinase 1 (Alk1) can lead to hereditary hemorrhagic telangiectasia (HHT), which is a kind of vascular disease characterized by direct connections between arteries and veins with the lacking of capillaries, and develops into arteriovenous malformations (AVMs) in later stage.
|
30687014 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations.
|
19337313 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Endoglin (ENG) and ALK-1 mutations cause hereditary hemorrhagic telangiecstasia (HHT), an autosomal dominant disorder leading to vascular dysplasia in the form of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs).
|
16059938 |
2005 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report highlights ALK1 mutations associated with a variable PAH phenotype, including pulmonary arteriovenous malformations and severe PAH presenting early in life.
|
19357124 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genotype-phenotype correlation was consistent with a higher frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.
|
19508727 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
|
27611203 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HHT-1 is considered a more severe form of the disease with an earlier onset of epistaxis and telangiectases and a higher prevalence of pulmonary arteriovenous malformations than that found in HHT-2 subjects.
|
16611103 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results of this study link ACVRL1 (HHT Type 2 gene) to the formation of the clinically sporadic variants of vascular malformations of the CNS most commonly seen in patients with HHT, that is, AVMs and DAVFs.
|
16776339 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ACVRL1 c.314-35A>G was also associated with pulmonary AVM and liver VM among ENG mutation heterozygotes.
|
25847705 |
2015 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
|
16179574 |
2005 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most cases are caused by mutations in the endoglin gene on chromosome 9 (HHT type 1) or the activin receptor-like kinase 1 gene on chromosome 12 (HHT type 2), which leads to telangiectases and arteriovenous malformations (AVM) of the skin, mucosa, and viscera.
|
11773580 |
2002 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
|
16179574 |
2005 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of ACVRL1 Genetic Polymorphisms with Arteriovenous Malformations: A Case-Control Study and Meta-Analysis.
|
28927913 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of pulmonary arteriovenous malformations (AVM) is higher in HHT type 1, whereas hepatic AVMs are more common in HHT2.
|
30251589 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, ALK-1 mutations also lead to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease characterized by arteriovenous malformations (AVMs) leading to potentially life-threatening bleeding complications such as epistaxis.
|
30260738 |
2020 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ligand-neutralizing antibodies or inducible, endothelial-specific Alk1 deletion induce AVMs in mouse models as a result of increased PI3K (phosphatidylinositol 3-kinase)/AKT (protein kinase B) signaling.
|
29976569 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Arteriovenous malformations (AVMs) in organs, such as the lungs, intestine, and brain, are characteristic of hereditary hemorrhagic telangiectasia (HHT), a disease caused by mutations in activin-like kinase receptor 1 (ALK1), which is an essential receptor in angiogenesis, or endoglin.
|
21765215 |
2011 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ENG are observed in HHT type 1 with an incidence up to 40% for pulmonary AVMs, whereas mutations of ALK1 are observed in HHT type 2 with an incidence of only 14% for pulmonary AVMs, which clinically distinguishes these two types of mutation.
|
16703249 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.
|
16542389 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common polymorphisms in interleukin-1beta and activin receptor-like kinase-1 are associated with arteriovenous malformation susceptibility, and polymorphisms in interleukin-1beta, interleukin-6, tumor necrosis factor-alpha and APOE are associated with arteriovenous malformation rupture.
|
19064791 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic involvement commonly is found in patients with HHT (31% in our study), mainly in patients with ALK1 mutation; pancreatic telangiectases or AVMs are only diagnosed duringthe arterial phase at multidetector CT.
|
20093519 |
2010 |