|
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 |
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
|
29048420 |
2018 |
|
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 |
These results confirm that the frequency of AVMs differ between patients with HHT1 and HHT2, and that these differences can be detected on physical examination.
|
18831062 |
2008 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The current model for HHT is that ENG or ALK-1 haplo-insufficiency affects angiogenesis and predisposes to vascular dysplasia and arteriovenous malformations.
|
17576210 |
2007 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Major clinical symptoms of HHT are arteriovenous malformations ( AVM s) found in the brain, lungs, visceral organs, and mucosal surface.
|
30571376 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in endoglin and activin receptor-like kinase 1 (ALK1), an endothelial specific TGF-beta type I receptor, have been linked to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations.
|
18283546 |
2008 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mouse models of HHT have led to the proposal that 3 events-heterozygosity, loss of heterozygosity, and angiogenic stimulation-are necessary for arteriovenous malformation formation.
|
26821948 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
Together, our findings support a unique role for Bmp10 as a non-redundant Alk1 ligand required to maintain the post-embryonic vasculature and establish zebrafish bmp10 mutants as a model for AVM-associated high-output heart failure, which is an increasingly recognized complication of severe liver involvement in HHT2.
|
31828546 |
2019 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Methods An adult activin receptor-like kinase 1 (Alk1)-inducible knockout (iKO) model was utilized to evaluate the effect of oral administration of sorafenib, sunitinib, erlotinib and a pazopanib analog (GW771806) on hemoglobin level, GI hemorrhages and formation of wound-induced skin AVMs.
|
28339142 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
Arteriovenous malformations in mice lacking activin receptor-like kinase-1.
|
11062473 |
2000 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The management of HHT in two pediatric patients in whom hemorrhaging from a cerebral AVM occurred but who also had other lesions is presented here.
|
18154019 |
2007 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Reduced AlK-1 activity is associated with arteriovenous malformations.
|
28213819 |
2017 |