Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.
|
22235340 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
|
26497932 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
|
21637106 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
|
8317500 |
1993 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.
|
1905723 |
1991 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Vascular-type Ehlers-Danlos syndrome (vEDS) is a severe autosomal dominant inherited disorder resulting from mutations within the α1 type III collagen gene (COL3A1).
|
20518783 |
2010 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
|
2145268 |
1990 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
|
2349939 |
1990 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
|
1496983 |
1992 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have shown that Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutations of type III collagen (COL3A1).
|
8411057 |
1993 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
|
10051163 |
1999 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.
|
2243125 |
1990 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
|
9036918 |
1997 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of COL3A1 mutations.
|
25776230 |
2015 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
|
2875936 |
1986 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied.
|
1757960 |
1991 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
|
28183226 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
|
1998337 |
1991 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1.
|
28742248 |
2017 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
|
8019562 |
1994 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
|
1370809 |
1992 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.
|
12786757 |
2003 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
|
10923041 |
2000 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by type III procollagen gene (COL3A1) mutations.
|
21219851 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-Danlos syndrome type IV based on abnormal production of type III procollagen and a novel mutation in the COL3A1 gene.
|
12173720 |
2002 |