|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
|
9637425 |
1998 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5.
|
8723100 |
1996 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B).
|
8931695 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter gene cause a family of chondrodysplasias including, in order of increasing severity, diastrophic dysplasia, atelosteogenesis type 2 and achondrogenesis type 1B.
|
9342225 |
1997 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
|
8702490 |
1996 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
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 |
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 |
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 |
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
|
10482955 |
1999 |
|
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 |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
|
8571951 |
1996 |
|
Achondrogenesis, type IB (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
|
8931695 |
1996 |
|
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 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
|
9342225 |
1997 |
|
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 |