|
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 |
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
|
23824952 |
2013 |
|
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3.
|
27484238 |
2016 |
|
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1).
|
27959412 |
2017 |
|
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (OMIM 31300) is a rare cranio-tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly-inherited mutations in the transforming growth factor beta 1 (TGFB1) gene.
|
30690794 |
2019 |
|
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 |
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 |
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 |
|
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 |
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 |
BEFREE |
Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity.
|
23729546 |
2013 |
|
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 |
Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD.
|
15326622 |
2004 |
|
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene (TGFB1) that encodes transforming growth factor-β1 (TGF-β1) are causative for CED.
|
27928112 |
2017 |
|
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 |
Of our five patients, two had a heterozygous missense mutation in exon 2 of TGFβ1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms.
|
23453470 |
2013 |