Predicted phenotype by type and number of mutations according to mechanisms presented in Table 1.
| Allele 1/Allele 2 . | Phenotype . | Type of VWD . |
|---|---|---|
| Normal/Normal | Normal | – |
| Normal/Null | ~50% VWF reduction in plasma and platelets | Normal (low VWF level); Carriers of type 3 |
| Normal/Missense | Mechanism a) of Table 1: ~75% VWF reduction in plasma (around 25 U/dL normal VWF in plasma) | 1) Type 1 |
| Mechanism b) of Table 1: abnormal multimers or intrinsic functional abnormality | 2) Type 2 VWD | |
| Missense/Missense | As above, increased severity | Type 1 or Type 2 VWD |
| Missense/Null | As above, increased severity | Type 1, 2 or 3 VWD |
| Null/Null | No VWF detectable in plasma and platelets | Type 3 |
| Allele 1/Allele 2 . | Phenotype . | Type of VWD . |
|---|---|---|
| Normal/Normal | Normal | – |
| Normal/Null | ~50% VWF reduction in plasma and platelets | Normal (low VWF level); Carriers of type 3 |
| Normal/Missense | Mechanism a) of Table 1: ~75% VWF reduction in plasma (around 25 U/dL normal VWF in plasma) | 1) Type 1 |
| Mechanism b) of Table 1: abnormal multimers or intrinsic functional abnormality | 2) Type 2 VWD | |
| Missense/Missense | As above, increased severity | Type 1 or Type 2 VWD |
| Missense/Null | As above, increased severity | Type 1, 2 or 3 VWD |
| Null/Null | No VWF detectable in plasma and platelets | Type 3 |