Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
|
20979188 |
2010 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant hereditary disorder of connective tissue associated with perturbations in transforming growth factor β (TGF-β) biology, most often due to mutations in FBN1 gene that encodes fibrillin-1.
|
22847364 |
2012 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring.
|
24349050 |
2013 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is an autosomal dominant disease caused by mutations in the gene encoding for fibrillin-1 (FBN1).
|
24504995 |
2014 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a dominantly inherited disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1).
|
24740214 |
2014 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Marfan's syndrome is a rare genetic disorder caused by a mutation of the gene FBN1, coding for the protein fibrillin-1.
|
25765122 |
2015 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue that affects the cardiovascular, skeletal, ocular, pulmonary, and nervous systems and is usually caused by mutations in the FBN1 gene, which encodes fibrillin-1.
|
27181042 |
2016 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway.
|
29042385 |
2017 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1.
|
29226593 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a pleiotropic genetic disease involving the cardiovascular system where a fibrillin-1 mutation is present.
|
29483877 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan Syndrome (MFS) is a rare connective tissue disorder, resulting from mutations in the fibrillin-1 gene, characterized by pathologic phenotypes in multiple organs, the most detrimental of which affects the thoracic aorta.
|
30041021 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene.
|
30087447 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene.
|
30151001 |
2018 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1), resulting in aortic aneurysm formation and dissections.
|
30359839 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1.
|
30685343 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in the fibrillin-1 gene.
|
30926475 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan's syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin-1.
|
31065451 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MS) is an autosomal dominant disorder of connective tissue that is caused by mutations in the fibrillin-1 (FBN-1) gene that cause degeneration of the artery.
|
31073986 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in fibrillin-1 (Fbn1).
|
31125551 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is associated with mutations in fibrillin-1 that predispose afflicted individuals to progressive thoracic aortic aneurysm (TAA) leading to dissection and rupture of the vessel wall.
|
31167969 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an extracellular matrix (ECM) component, which is modified post-translationally by glycosylation.
|
31315432 |
2019 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1.
|
31357961 |
2019 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies.
|
10633129 |
2000 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
|
11391655 |
2001 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life.
|
12203987 |
2002 |