|
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 |
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 |
Arteriovenous malformations in mice lacking activin receptor-like kinase-1.
|
11062473 |
2000 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |