|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).
|
1353665 |
1992 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
|
8244341 |
1993 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
|
22028304 |
2012 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
|
8019561 |
1994 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
|
25604898 |
2015 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).
|
10745044 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children.
|
31755234 |
2020 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
|
8893763 |
1996 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen.
|
1978986 |
1990 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
|
7847372 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies.
|
16155195 |
2006 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
|
21204228 |
2011 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
|
10678662 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital.
|
25967556 |
2015 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.
|
9832566 |
1998 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.
|
10678662 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
|
8877930 |
1996 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.
|
25900302 |
2015 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
|
2543071 |
1989 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
|
2543071 |
1989 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
|
21924244 |
2011 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
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 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
|
1671807 |
1991 |