Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
|
10706896 |
2000 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
|
10706896 |
2000 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
|
10706896 |
2000 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
|
10706896 |
2000 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
|
11168790 |
2001 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
|
11168790 |
2001 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
|
2834369 |
1988 |
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 |
Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.
|
7665911 |
1995 |
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 |
UNIPROT |
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 |
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 |
UNIPROT |
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
|
1357232 |
1992 |
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 |
UNIPROT |
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
|
8990011 |
1997 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture.
|
21071432 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture.
|
21071432 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
|
23489429 |
2013 |
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 |
UNIPROT |
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
|
8664902 |
1996 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
|
1352273 |
1992 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
|
1352273 |
1992 |