Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and hearing loss.
|
28109507 |
2017 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2).
|
25604898 |
2015 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma.
|
26345137 |
2015 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kniest dysplasia is associated with heterozygous COL2A1 mutations that are frequently de novo.
|
25592122 |
2015 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
|
23188137 |
2013 |
Kniest dysplasia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Kniest dysplasia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
Kniest dysplasia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
|
18541977 |
2008 |
Kniest dysplasia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.
|
15895462 |
2005 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.
|
15895462 |
2005 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.
|
14644246 |
2003 |
Kniest dysplasia
|
0.800 |
Biomarker
|
disease |
CTD_human |
Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features.
|
11297324 |
2001 |
Kniest dysplasia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype.
|
10406661 |
1999 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype.
|
10406661 |
1999 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The findings support an emerging pattern of COL2A1 mutations that can cause Kniest dysplasia.
|
9675039 |
1998 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes in these children highlight the importance of exon 12 mutations of COL2A1 in the pathogenesis of Kniest dysplasia.
|
9269170 |
1997 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
|
8863156 |
1996 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study highlights the importance of dominant negative mutations of COL2A1 in producing Kniest dysplasia.
|
8893763 |
1996 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
|
8863156 |
1996 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
|
7700721 |
1994 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These two cases strengthen the concept that Kniest dysplasia is based on mutations of COL2A1 and belongs within the broad spectrum of chondrodysplasias caused by type II collagenopathies.
|
7977371 |
1994 |
Kniest dysplasia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.
|
7874117 |
1994 |
Kniest dysplasia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
|
2543071 |
1989 |
Kniest dysplasia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|