|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital contractural arachnodactyly (Beals syndrome).
|
16740166 |
2006 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital contractural arachnodactyly (Beals syndrome).
|
7815423 |
1994 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutations, and FBN2 mutations were identified in six of these samples.
|
9714438 |
1998 |
|
Congenital contractural arachnodactyly
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutations, and FBN2 mutations were identified in six of these samples.
|
9714438 |
1998 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.
|
19473076 |
2009 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
|
9737771 |
1998 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Altered microRNA (miRNA) expression plays a role in cholangiocarcinoma (CCA) development; thus, detection of blood-circulating miRNAs could be useful as CCA markers.
|
27658773 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of FBN2 might be useful to identify such high-risk patients.
|
25975422 |
2015 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An in-house PCR array containing 176 putative CCA marker genes was tested with the training set tissues of 20 CCA and 10 HCC cases.
|
24586698 |
2014 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cases 27, 44, and 84 had two silent mutations from GAC (Asp) to GAT (Asp) at codon 82, and from CCA (Pro) to CCT (Pro) at codon 132.
|
14719121 |
2004 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Commercially available POC tests (POC-CCA® and Urine CCA (Schisto) ECO Teste®) were evaluated to evidence their potential in low endemicity areas.
|
31194970 |
2019 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
|
19006240 |
2009 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
|
27196565 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
|
27196565 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene.
|
12383326 |
2002 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
MGD |
ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.
|
20161761 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
|
20799338 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
|
20799338 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
|
8900230 |
1996 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly.
|
10216958 |
1999 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1) and congenital contractural arachnodactyly (mutation of FBN2).
|
22921888 |
2012 |