OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
<i>FBN1</i> encodes fibrillin 1, a key structural component of the extracellular matrix, and its variants are associated with a wide range of hereditary connective tissues disorders, such as Marfan syndrome (MFS) and mitral valve-aorta-skeleton-skin (MASS) syndrome.
|
31185693 |
2019 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome.
|
26875674 |
2016 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Subsequent medical genetics evaluation led ultimately to the diagnosis of the MASS phenotype and the discovery of an underlying FBN1 mutation.
|
24740214 |
2014 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non-progressive aortic root dilatation, skeletal features, and striae).
|
23794388 |
2013 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection.
|
20082464 |
2010 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection.
|
20082464 |
2010 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
GeneticVariation
|
disease |
CLINVAR |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|
7762551 |
1995 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
|
1301946 |
1992 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
Biomarker
|
disease |
CTD_human |
|
|
|
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
|
|
|