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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: von Willebrand disease, type 1

OMIM: 193400
Inheritance: Autosomal dominant
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

VWF || c.7085G>T

Gene/Locus:	VWF
Dna Change:	c.7085G>T
Protein Change:	p.Cys2362Phe
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 42
Transcript:	NM_000552.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	6 patients/ 1 family	NA	Castaman G et al., 2002Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F, . A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.. Thromb. Res.. 2002; 105(2):135-8

VWF || c.3389G>T (G3639T)

Gene/Locus:	VWF
Dna Change:	c.3389G>T (G3639T)
Protein Change:	p.Cys1130Phe (C1130F)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 26
Transcript:	NM_000552.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	3 patients/24 patients	NA	Castaman G et al., 2000Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F, . Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.. Br. J. Haematol.. 2000; 108(4):876-9

VWF || c.2561G>A

Gene/Locus:	VWF
Dna Change:	c.2561G>A
Protein Change:	p.Arg854Gln
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 20
Transcript:	NM_000552.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	13 unrelated families	10000 years ago	Casonato A et al., 2013Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, . A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.. Haematologica. 2013; 98(1):147-52

References

Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.Haematologica. 2013; 98(1):147-52

Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F, Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.Br. J. Haematol.. 2000; 108(4):876-9

Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F, A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.Thromb. Res.. 2002; 105(2):135-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: von Willebrand disease, type 1

References