Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
|
26375458 |
2015 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Achondrogenesis, type IB (disorder)
|
0.790 |
Biomarker
|
disease |
BEFREE |
SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900).
|
21155763 |
2011 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
|
20592910 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
Achondrogenesis, type IB (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
It was suggested that DLCD might be part of the SLC26A2 spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and AO2.
|
18708426 |
2008 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
16642506 |
2006 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
|
15316973 |
2004 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
Achondrogenesis, type IB (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)).
|
12966518 |
2003 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Achondrogenesis, type IB (disorder)
|
0.790 |
AlteredExpression
|
disease |
BEFREE |
Thus, in achondrogenesis type IB: (1) a complex derangement in cartilage matrix assembly lies downstream of the deficient sulfate transporter activity; (2) the severely impaired decorin deposition participates in the changes in matrix organization with lack of development of normal interterritorial matrix; and (3) this change determines the lack of the necessary structural substrate for proper endochondral bone formation and explains the severe skeletal phenotype.
|
11570921 |
2001 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |