Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene

Table 2 Reports of autosomal recessive severe type 1 von Willebrand disease caused by homozygous missense or double heterozygous missense/null mutations in the D1 or D2 domain

Mutation	F/M(yr)	BT(min)	VIII: C(U/dL)	VWF: Ag(U/dL)	VWF: RCo(U/dL)	Domain/VWF	VWD type
D141Y/null[19]	F/63	> 30	0.03	< 1	< 1	D1	Severe 1
C275S/null[19]	F/26	> 30	0.03	< 1	< 1	D1	Severe 1
R273W/R273W[20]	Boy	15	0.20	0.06	0.06	D1	Severe 1
R273W/R273W	Boy	15	0.33	0.09	0.04	D1	Severe 1
R273W/R273W	Boy	> 20	0.09	< 0.01	< 0.01	D1	Severe 1
W377C/W377C[12]	Child	> 20	0.02	0.03	0.03	D1	No data
C570S/C570S[21]	Boy	↑↑	0.12	0.05	0.05	D2	Severe 1
Q77X/splice site Intron[24]		> 30	0.20-0.31	0.04-0.06	0.03-0.06	D1/D2	Severe 1

VWF: von Willebrand factor; VWD: von Willebrand disease.