
 Phenotype ID
|

 Diagnosis/Initial
|

 Inheritance
|

 Diagnosis/Definite
|

 Protein
|

 Phenotype details
|

 Protein/Multimer_profile
|

 BleedingScore
|

 BleedingScore/Tool
|

 Auto-antibodies
|

 Owner
|

 Individual ID
|
0000020333 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 2; VWF:RCo <3; FVIII:C 1 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024230 |
0000020334 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 1; VWF:RCo 1; FVIII:C 1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00024231 |
0000020335 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024232 |
0000020369 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <1; VWF:RCo 3; FVIII:C 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024247 |
0000020370 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024248 |
0000020371 |
- |
Familial, autosomal recessive |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00024249 |
0000020372 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024250 |
0000020374 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024252 |
0000020376 |
- |
Unknown |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00024254 |
0000020377 |
- |
Unknown |
- |
VWF_Ag:6, VWF_RCo:9, FVIII_C:1, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00024255 |
0000020379 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024257 |
0000020380 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00024258 |
0000020382 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:-, VWF_RCo:<8, FVIII_C:3, VWF_CB:-, VWFpp:- |
- |
lr absent |
- |
- |
? |
Daniel J Hampshire |
00024260 |
0000020383 |
- |
Unknown |
- |
VWF_Ag:5, VWF_RCo:8, FVIII_C:3, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00024261 |
0000027443 |
- |
Unknown |
- |
VWF_Ag:6, VWF_RCo:9, FVIII_C:3, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034048 |
0000027444 |
- |
Unknown |
- |
VWF:Ag 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034049 |
0000027445 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034050 |
0000027446 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034051 |
0000027449 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<1, VWF_RCo:<3, FVIII_C:9, VWF_CB:-, VWFpp:- |
- |
lr absent |
- |
- |
No |
Daniel J Hampshire |
00034054 |
0000027451 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<1, VWF_RCo:<1, FVIII_C:1, VWF_CB:-, VWFpp:- |
- |
lr absent |
- |
- |
? |
Daniel J Hampshire |
00034056 |
0000027452 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<1, VWF_RCo:<2, FVIII_C:2, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034057 |
0000027453 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:0, VWF_RCo:0, FVIII_C:3, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034058 |
0000027784 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<5, VWF_RCo:<5, FVIII_C:4, VWF_CB:<5, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034388 |
0000027786 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<1, VWF_RCo:<5, FVIII_C:1, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034390 |
0000027787 |
- |
Unknown |
- |
VWF:Ag 1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034391 |
0000027788 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034392 |
0000027790 |
- |
Unknown |
- |
VWF:Ag 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034394 |
0000027791 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00034395 |
0000027792 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:3, VWF_RCo:3, FVIII_C:2, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034396 |
0000027794 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00034398 |
0000028094 |
- |
Unknown |
- |
VWF_Ag:1, VWF_RCo:5, FVIII_C:2, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00037574 |
0000028097 |
- |
Unknown |
- |
VWF:Ag <6; VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00037577 |
0000028102 |
- |
Unknown |
- |
VWF_Ag:5, VWF_RCo:<8, FVIII_C:4, VWF_CB:-, VWFpp:- |
- |
lr absent |
- |
- |
? |
Daniel J Hampshire |
00037583 |
0000028106 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00037587 |
0000028108 |
- |
Unknown |
- |
VWF:Ag 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00037589 |
0000034258 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00046576 |
0000034260 |
- |
Unknown |
- |
VWF:Ag 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00046578 |
0000034656 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00047299 |
0000034710 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 0; VWF:RCo 0; FVIII:C 3 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00047848 |
0000034711 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 3; VWF:RCo 3; FVIII:C 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00047852 |
0000034712 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 3; VWF:RCo 3; FVIII:C 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00047853 |
0000034713 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 0; VWF:RCo 3; FVIII:C 1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00047854 |
0000034714 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 0; VWF:RCo 0; FVIII:C 7 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00047855 |
0000035833 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <5; VWF:RCo <8; FVIII:C 4 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049065 |
0000035834 |
- |
Unknown |
- |
VWF:Ag 6; VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049066 |
0000035835 |
- |
Familial, autosomal recessive |
- |
VWF:RCo <8; FVIII:C 4 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049067 |
0000035836 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <5; VWF:RCo <8; FVIII:C 3 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049068 |
0000035837 |
- |
Familial, autosomal recessive |
- |
VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049069 |
0000035838 |
- |
Unknown |
- |
VWF:Ag 5; VWF:RCo <8; FVIII:C 4 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049070 |
0000035839 |
- |
Unknown |
- |
VWF:Ag <6; VWF:RCo <8; FVIII:C 5 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049071 |
0000036562 |
- |
Unknown |
- |
VWF:RCo <8; FVIII:C 1 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049795 |
0000036563 |
- |
Unknown |
- |
VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049796 |
0000036564 |
- |
Unknown |
- |
VWF:RCo <8; FVIII:C 1 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049797 |
0000036565 |
- |
Unknown |
- |
VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049798 |
0000036566 |
- |
Unknown |
- |
VWF:Ag <5; VWF:RCo <8; FVIII:C 1 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049799 |
0000036567 |
- |
Unknown |
- |
VWF:Ag 6; VWF:RCo <8; FVIII:C 2 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049800 |
0000036577 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <6; VWF:RCo <5; FVIII:C 3 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00049806 |
0000043067 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00056444 |
0000043897 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057217 |
0000043898 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057218 |
0000043899 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057219 |
0000043900 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057220 |
0000043901 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057221 |
0000043902 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057222 |
0000043903 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057223 |
0000043904 |
- |
Unknown |
- |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00057224 |
0000045146 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:<1, VWF_RCo:<3, FVIII_C:8, VWF_CB:-, VWFpp:- |
- |
lr absent |
- |
- |
? |
Daniel J Hampshire |
00058550 |
0000045609 |
- |
Unknown |
- |
VWF_Ag:12, VWF_RCo:6, FVIII_C:5, VWF_CB:-, VWFpp:- |
- |
? |
- |
- |
? |
Daniel J Hampshire |
00059021 |
0000054307 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <1; VWF:RCo 3; FVIII:C 4 |
- |
Absent (low res);Reduced/absent satellite bands (high res) |
- |
- |
? |
Daniel J Hampshire |
00074505 |
0000058771 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 3; VWF:RCo <3; FVIII:C 5 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00079016 |
0000058779 |
- |
Familial, autosomal recessive |
- |
VWF_Ag:3, VWF_RCo:3, FVIII_C:7, VWF_CB:1, VWFpp:25 |
- |
hr reduced;lr absent |
18 |
MCMDM-1VWD |
? |
Daniel J Hampshire |
00079024 |
0000059724 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00080159 |
0000078448 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00100216 |
0000078457 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <1; VWF:RCo <3; FVIII:C 5 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00100220 |
0000078528 |
- |
Unknown |
- |
VWF:Ag 6; VWF:RCo 6; FVIII:C 6 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00100308 |
0000081210 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00103080 |
0000119795 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 0; VWF:RCo 0; FVIII:C 2.2 |
Refer to paper |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00147078 |
0000123794 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 1; FVIII:C 2 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00151400 |
0000127671 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00154938 |
0000127672 |
- |
Familial, autosomal recessive |
- |
VWF:Ag <1.5; VWF:RCo <3; FVIII:C 2.6 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00154939 |
0000127673 |
- |
Familial, autosomal recessive |
- |
VWF:Ag 1.5; VWF:RCo 4; FVIII:C 8 |
- |
Absent (low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00154940 |
0000127674 |
- |
Unknown |
- |
VWF:Ag 6.7; VWF:RCo 8.7; FVIII:C 5.7 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
? |
Daniel J Hampshire |
00154941 |
0000128944 |
- |
Unknown |
- |
VWF:Ag <1 |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
No |
Daniel J Hampshire |
00163818 |
0000175635 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 3.9; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
26 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235374 |
0000175636 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 5.4; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
16 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235375 |
0000175637 |
- |
Unknown |
- |
VWF:Ag 4; VWF:RCo 1; FVIII:C 3.9; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
19 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235376 |
0000175638 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 2.6; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
24 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235377 |
0000175639 |
- |
Unknown |
- |
VWF:Ag 1.2; VWF:RCo 6; FVIII:C 11; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
23 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235378 |
0000175640 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 4.3; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
18 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235380 |
0000175641 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 3.7; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
21 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235381 |
0000175642 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 5; FVIII:C 2.9; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
14 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235382 |
0000175643 |
- |
Unknown |
- |
VWF:Ag 1.6; VWF:RCo 5; FVIII:C 4.5; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
13 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235383 |
0000175644 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 5; FVIII:C 1.9; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
10 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235384 |
0000175645 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 5; FVIII:C 2.3; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
7 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235385 |
0000175646 |
- |
Unknown |
- |
VWF:Ag 3; VWF:RCo 5; FVIII:C 12; VWF:CB 2 |
- |
? (unknown; low res);? (unknown; high res) |
4 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235386 |
0000175661 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 2; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
8 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235399 |
0000175662 |
- |
Unknown |
- |
VWF:Ag 1; VWF:RCo 1; FVIII:C 4 |
- |
? (unknown; low res);? (unknown; high res) |
8 |
ISTH-BAT |
? |
Irene Corrales Insa |
00235400 |
0000179279 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 5; FVIII:C 3; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
12 |
ISTH-BAT |
? |
Irene Corrales Insa |
00238993 |
0000179280 |
- |
Unknown |
- |
VWF:Ag 3.7; VWF:RCo 5; FVIII:C 6.7; VWF:CB 1.9 |
- |
? (unknown; low res);? (unknown; high res) |
10 |
ISTH-BAT |
? |
Irene Corrales Insa |
00238994 |
0000179281 |
- |
Unknown |
- |
VWF:Ag 0; VWF:RCo 4; FVIII:C 5.7; VWF:CB 0 |
- |
? (unknown; low res);? (unknown; high res) |
8 |
ISTH-BAT |
? |
Irene Corrales Insa |
00238995 |