Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Camurati-Engelmann Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base.
|
10631145 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
|
10973241 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
|
10973241 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
|
11062463 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
|
11062463 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
|
11062463 |
2000 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones.
|
11278244 |
2001 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20].
|
11807860 |
2002 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that CED is a clinically variable condition and that this clinical variability is not accounted for by polymorphisms at the TGF-beta1 locus.
|
11810278 |
2001 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We and others reported that mutations in TGFB1 cause Camurati-Engelmann disease, a rare bone disorder.
|
12493741 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease.
|
12493741 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
|
12843182 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Osteoclast formation was enhanced approximately 5-fold (P < 0.001) and bone resorption approximately 10-fold (P < 0.001) in CED patients, and the increase in osteoclast formation was inhibited by soluble TGFbeta type II receptor.
|
12843182 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
|
15103729 |
2004 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD.
|
15326622 |
2004 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1.
|
15894597 |
2006 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on chromosome 19q13.1-q13.3.
|
17433803 |
2007 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on chromosome 19q13.1-q13.3.
|
17433803 |
2007 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.
|
19654961 |
2009 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFβ1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFβ1, consistent with CED.
|
21541994 |
2011 |