Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
|
25792522 |
2015 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
|
24502542 |
2014 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
|
23451857 |
2013 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
|
22964620 |
2012 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
|
18946009 |
2008 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
|
11807863 |
2002 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
|
11112658 |
2001 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
|
11112658 |
2001 |
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene.
|
25899858 |
2015 |
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Langer-Giedion syndrome (LGS; MIM 150230), also called trichorhinophalangeal syndrome type II (TRPS2), is a contiguous gene syndrome caused by a one-copy deletion in the chromosome 8q23-q24 region, spanning the genes TRPS1 and EXT1.
|
23832104 |
2013 |
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Our patient differs from previously reported LGS patients without TRPS1 gene deletion in that she has the typical LGS facial dysmorphism and skeletal abnormalities.
|
22315192 |
2012 |
Langer-Giedion Syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion.
|
21948702 |
2011 |
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only.
|
19464398 |
2009 |
Langer-Giedion Syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1.
|
18478595 |
2008 |
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
|
12457403 |
2002 |
Langer-Giedion Syndrome
|
0.690 |
Biomarker
|
disease |
CTD_human |
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case.
|
11708946 |
2001 |
Langer-Giedion Syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene.
|
10647898 |
1999 |
Langer-Giedion Syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes.
|
8530105 |
1995 |
Langer-Giedion Syndrome
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Langer-Giedion Syndrome
|
0.690 |
ChromosomalRearrangement
|
disease |
ORPHANET |
|
|
|
Carcinoma
|
0.310 |
AlteredExpression
|
group |
BEFREE |
Although numerous studies have reported that tricho-rhino-phalangeal syndrome type I (TRPS1) protein, the only reported atypical GATA transcription factor, is overexpressed in various carcinomas, the underlying mechanism(s) by which it contributes to cancer remain unknown.
|
30071870 |
2018 |