Table 1.

Genotype-phenotype correlations in VWD.

VWD Type	Mutation Type	Mutation Location	Inheritance Pattern	Clinical Phenotype	Laboratory Phenotype
Type 1	Missense, nonsense, deletion, insertion, splicing	Throughout VWF gene	Autosomal dominant	Mild-moderate bleeding	Proportionate decrease in VWF:Ag and VWF:RCo
Type 3	Missense, nonsense, deletion, insertion, splicing	Throughout VWF gene	Autosomal recessive	Severe mucosal bleeding, may have joint bleeds	Undetectable VWF:Ag and VWF:RCo
Type 2A	Missense*	VWF A2 domain D1, D2, D′, D3 domains CK domain	Autosomal dominant	Moderately severe	↓VWF:RCo/VWF:Ag ratio and loss of high molecular weight multimers
Type 2B	Missense	VWF A1 domain	Autosomal dominant	Moderately severe	↓VWF:RCo/VWF:Ag ratio and loss of high molecular weight multimers spontaneous platelet binding ± thrombocytopenia
Type 2M	Missense*	VWF A1 and A3 domains	Autosomal dominant	Moderately severe	↓VWF:RCo/VWF:Ag ratio and/or collagen binding defect
Type 2N	Missense*	D′ and D3 domains	Autosomal recessive	Moderately severe	Defect in FVIII binding

^*Missense mutations are the most frequent, but deletions, insertions, and splicing mutations have been reported.³