Disorder "Von Willebrand's Disease"
Found 1 record
Disorder information
Disorder name:
Von Willebrand's Disease
Disoder ID:
Synonyms:
vascular pseudohemophilia, von Willebrand disorder, von Willebrand's-Jurgens' disease, vascular hemophilia, von Willebrand-Jrgens disease, von Willebrand disease
Definition:
A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered VWF biosynthesis(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| VWF | VWF:p.Gln2657* | Expressivity | Altered VWF biosynthesis | Study on mouse strains | A single SNP (+7970G>A) and the associated nonsynonymous amino acid change (R2657Q) confers a significant increase in VWF biosynthesis from the CASA/RkJ Vwf allele.more | more |
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