|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Arteriovenous malformations in mice lacking activin receptor-like kinase-1.
|
11062473 |
2000 |
|
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 |
Biomarker
|
disease |
BEFREE |
HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver.
|
19553198 |
2011 |
|
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 |
Biomarker
|
disease |
BEFREE |
A higher frequency of pulmonary arteriovenous malformations (AVMs) has been reported for HHT1 while HHT2 is thought to be associated with a lower penetrance and milder disease manifestations.
|
12843319 |
2003 |
|
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 |
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 |
Association of ACVRL1 Genetic Polymorphisms with Arteriovenous Malformations: A Case-Control Study and Meta-Analysis.
|
28927913 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cerebral arteriovenous malformations were more common in patients with HHT1, but spinal arteriovenous malformations were seen only in patients with HHT2.
|
16470787 |
2006 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
|
29048420 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Endoglin is the gene mutated in HHT1, which is associated with a higher prevalence of pulmonary arteriovenous malformations than HHT2, where ALK-1 is the mutated gene.
|
10625079 |
2000 |
|
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 |
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 |
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1.
|
16705692 |
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 |
Biomarker
|
disease |
BEFREE |
HHT 1 has been correlated with a higher prevalence of pulmonary arteriovenous malformations than HHT 2.
|
11170071 |
2001 |
|
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 |
Biomarker
|
disease |
BEFREE |
In conclusion, no evidence for differences in brain AVM characteristics was observed among HHT gene groups, although we cannot exclude clinically important differences.
|
22991266 |
2012 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT.
|
26645978 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
It also adds to the evidence suggesting that pulmonary AVMs are more common in HHT 1 than in HHT 2.
|
10946360 |
2000 |
|
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 |