CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
|
27339457 |
2016 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
|
22943132 |
2012 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
|
19664000 |
2009 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia.
|
2038931 |
1991 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly.
|
27339457 |
2016 |
Cutis Laxa
|
0.650 |
Biomarker
|
disease |
BEFREE |
Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities.
|
26178373 |
2015 |
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa.
|
24733866 |
2014 |
Cutis Laxa
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
|
22829427 |
2013 |
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
|
22070778 |
2012 |
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations.
|
20389311 |
2010 |
Cutis Laxa
|
0.650 |
Biomarker
|
disease |
HPO |
|
|
|
Cutis Laxa
|
0.650 |
Biomarker
|
disease |
MGD |
|
|
|
Aortic Aneurysm
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections.
|
30355232 |
2018 |
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in fibulin-4 (<i>FBLN4</i>) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms.
|
28508064 |
2017 |
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
HPO |
|
|
|
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
MGD |
|
|
|