Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SMAD4 gene mutation in HHT patients is independently associated with a higher risk of aortic root and ascending aortic dilation as compared to other HHT patients and non-HHT controls.
|
28874282 |
2017 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One patient with mutations in both ENG and ACVRL1 genes was identified, as were two SMAD4-mutated patients suffering from the overlapping juvenile polyposis-HHT syndrome.
|
30251589 |
2018 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Any JP patient with a SMAD4 mutation is, therefore, at risk for the visceral manifestations of HHT and any HHT patient with SMAD4 mutation is at risk for early onset gastrointestinal cancer.
|
20101697 |
2010 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.
|
20685751 |
2010 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SMAD4 gene are present in families with juvenile polyposis-HHT syndrome that involves AVMs.
|
29976569 |
2018 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with juvenile polyposis who have an MADH4 mutation should be screened for the vascular lesions associated with hereditary haemorrhagic telangiectasia, especially occult arteriovenous malformations in visceral organs that may otherwise present suddenly with serious medical consequences.
|
15031030 |
2004 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
JP-HHT phenotype in Danish patients with SMAD4 mutations.
|
26572829 |
2016 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation.
|
23794345 |
2013 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation.
|
22810475 |
2012 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The identification of SMAD4 mutations in HHT patients without prior diagnosis of JP has significant and immediate clinical implications, as these people are likely to be at risk of having JP-HHT with the associated increased risk of gastrointestinal cancer.
|
16613914 |
2006 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Background Hereditary hemorrhagic telangiectasia ( HHT ) is a rare genetic vascular disorder caused by mutations in endoglin ( ENG ), activin receptor-like kinase 1 ( ACVRL 1; ALK 1), or SMAD 4.
|
30571376 |
2018 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, <i>smad4/DPC4</i> is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers.Immunohistochemistry for smad4/DPC4 protein is most useful in separating benign/reactive conditions from pancreatic cancer in needle/core biopsies.
|
29720405 |
2018 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
|
19270816 |
2009 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.
|
29460088 |
2018 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Blockade of ANGPT2 function in an in vivo Smad4 model of hereditary hemorrhagic telangiectasia alleviated these vascular phenotypes, further implicating ANGPT2 as an important TGFβ downstream mediator of AVM formation.
|
30744395 |
2019 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable.
|
24525918 |
2014 |
Hereditary hemorrhagic telangiectasia
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gastric juvenile polyposis associated with germline SMAD4 mutation.
|
15754356 |
2005 |