
 Phenotype ID
|

 Diagnosis/Initial
|

 Inheritance
|

 Diagnosis/Definite
|

 Disease/Sub-type
|

 Phenotype details
|

 Protein
|

 Protein/Multimer_profile
|

 BleedingScore
|

 BleedingScore/Tool
|

 Owner
|

 Individual ID
|
0000020375 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 23; VWF:RCo 20; FVIII:C 1.5 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00024253 |
0000027447 |
- |
Familial, autosomal recessive |
- |
type 2A |
- |
VWF_Ag:6, VWF_RCo:6, FVIII_C:20, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00034052 |
0000027448 |
- |
Familial, autosomal recessive |
- |
type 2A |
- |
VWF_Ag:9, VWF_RCo:4, FVIII_C:21, VWF_CB:-, VWFpp:- |
lr absent HMW |
- |
- |
Daniel J Hampshire |
00034053 |
0000027450 |
- |
Familial, autosomal recessive |
- |
type 2A |
- |
VWF:Ag 7; VWF:RCo 2; FVIII:C 32; VWF:CB <1 |
Absent (low res);? (unknown; high res) |
17 |
MCMDM-1VWD |
Daniel J Hampshire |
00034055 |
0000027785 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:43, VWF_RCo:49, FVIII_C:7, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00034389 |
0000027793 |
- |
Unknown |
- |
type 2A |
2A(IIC) |
VWF_Ag:50, VWF_RCo:10, FVIII_C:67, VWF_CB:-, VWFpp:- |
hr reduced |
- |
- |
Daniel J Hampshire |
00034397 |
0000027919 |
- |
Unknown |
- |
type 2A |
- |
VWF_Ag:74, VWF_RCo:45, FVIII_C:94, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00034515 |
0000027920 |
- |
Unknown |
- |
type 2A |
- |
VWF_Ag:50, VWF_RCo:<5, FVIII_C:26, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00034516 |
0000028095 |
- |
Familial, autosomal recessive |
- |
type 2A |
2A(IIC) |
VWF_Ag:26, VWF_RCo:<6, FVIII_C:25, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00037575 |
0000028096 |
- |
Unknown |
- |
type 2A |
2A(IIC) |
VWF_Ag:159, VWF_RCo:25, FVIII_C:>100, VWF_CB:29, VWFpp:- |
hr reduced |
- |
- |
Daniel J Hampshire |
00037576 |
0000028098 |
- |
Familial, autosomal recessive |
- |
type 2A |
- |
VWF_Ag:5, VWF_RCo:5, FVIII_C:12, VWF_CB:-, VWFpp:- |
lr increased dimer |
- |
- |
Daniel J Hampshire |
00037578 |
0000028103 |
- |
Unknown |
- |
type 2A |
2A(IIC) |
VWF_Ag:11, VWF_RCo:<10, FVIII_C:20, VWF_CB:-, VWFpp:- |
hr reduced |
- |
- |
Daniel J Hampshire |
00037584 |
0000028104 |
- |
Familial, autosomal recessive |
- |
type 2A |
2A(IIC) |
VWF_Ag:16, VWF_RCo:<3, FVIII_C:24, VWF_CB:-, VWFpp:- |
hr reduced |
- |
- |
Daniel J Hampshire |
00037585 |
0000034657 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:51, VWF_RCo:46, FVIII_C:39, VWF_CB:38, VWFpp:- |
hr diffuse;lr ultra-large |
- |
- |
Daniel J Hampshire |
00047300 |
0000034660 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 76; VWF:RCo 71; FVIII:C 17 |
Ultra-large (low res);Diffuse satellite bands (high res) |
- |
- |
Daniel J Hampshire |
00047303 |
0000034662 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB moderately decreased |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047305 |
0000034663 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB moderately decreased |
VWF:Ag 20; FVIII:C 20 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047306 |
0000034665 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:49, VWF_RCo:-, FVIII_C:12, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047308 |
0000034666 |
- |
Familial, autosomal recessive |
- |
type 2A |
VWF:FVIIIB decreased |
VWF_Ag:18, VWF_RCo:10, FVIII_C:15, VWF_CB:-, VWFpp:- |
lr increased dimer |
- |
- |
Daniel J Hampshire |
00047309 |
0000034667 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 79; VWF:RCo 67; FVIII:C 1.5 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047316 |
0000034669 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 65; VWF:RCo 64; FVIII:C 26 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047348 |
0000034670 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:99, VWF_RCo:65, FVIII_C:4, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047349 |
0000034671 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:91, VWF_RCo:69, FVIII_C:17, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047350 |
0000034672 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 35; FVIII:C 14 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047351 |
0000034673 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:58, VWF_RCo:45, FVIII_C:3, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047352 |
0000034674 |
- |
Familial, autosomal recessive |
- |
type 2N |
- |
VWF_Ag:45, VWF_RCo:46, FVIII_C:6, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047356 |
0000034675 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:65, VWF_RCo:70, FVIII_C:6, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00047403 |
0000034676 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 78; VWF:RCo 94; FVIII:C 11 |
Ultra-large (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047404 |
0000034677 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:91, VWF_RCo:51, FVIII_C:10, VWF_CB:85, VWFpp:- |
hr diffuse;lr ultra-large |
- |
- |
Daniel J Hampshire |
00047405 |
0000034690 |
- |
Unknown |
- |
type 2N |
- |
VWF:Ag 67; FVIII:C 12 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047817 |
0000034691 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 53; VWF:RCo 51; FVIII:C 20 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00047818 |
0000034693 |
- |
Familial, autosomal recessive |
- |
type 2N |
- |
VWF_Ag:32, VWF_RCo:-, FVIII_C:15, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00047819 |
0000045147 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058551 |
0000045148 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058552 |
0000045149 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:100, VWF_RCo:140, FVIII_C:6.5, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00058553 |
0000045150 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058554 |
0000045416 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:146.5, FVIII_C:4.2, VWF_CB:220, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058826 |
0000045417 |
- |
Familial, autosomal recessive |
- |
type 2N |
- |
VWF_Ag:116, VWF_RCo:106, FVIII_C:6, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058827 |
0000045418 |
- |
Familial, autosomal recessive |
- |
type 2N |
- |
VWF_Ag:93, VWF_RCo:104, FVIII_C:4, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00058828 |
0000045607 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:89, VWF_RCo:74, FVIII_C:10, VWF_CB:-, VWFpp:- |
hr normal;lr normal |
- |
- |
Daniel J Hampshire |
00059019 |
0000045608 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB moderately decreased |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00059020 |
0000045680 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00059090 |
0000045681 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00059091 |
0000045682 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00059092 |
0000045732 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:120, VWF_RCo:-, FVIII_C:22, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059226 |
0000045733 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:70, VWF_RCo:-, FVIII_C:25, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059227 |
0000045734 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:110, VWF_RCo:-, FVIII_C:20, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059228 |
0000045735 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:50, VWF_RCo:-, FVIII_C:20, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059229 |
0000045737 |
- |
Familial, autosomal recessive |
- |
type 2N |
- |
VWF_Ag:86, VWF_RCo:103, FVIII_C:43, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059231 |
0000045739 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:58, VWF_RCo:50, FVIII_C:9.5, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00059234 |
0000045741 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:39, VWF_RCo:33, FVIII_C:15, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00059236 |
0000045744 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 50; FVIII:C 10 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00059238 |
0000045751 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(sm); VWF:FVIIIB impaired |
VWF_Ag:32, VWF_RCo:23, FVIII_C:25, VWF_CB:15, VWFpp:131 |
hr diffuse;lr relative decrease HMW |
4 |
MCMDM-1VWD |
Daniel J Hampshire |
00059245 |
0000054301 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:42, VWF_RCo:37, FVIII_C:20, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00074494 |
0000054302 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 100; VWF:RCo 90; FVIII:C 30 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00074495 |
0000054306 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:48, VWF_RCo:25, FVIII_C:16, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00074504 |
0000058760 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:115, VWF_RCo:112, FVIII_C:22, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00079004 |
0000058761 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF_Ag:55, VWF_RCo:65, FVIII_C:15, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00079006 |
0000058773 |
- |
Familial |
- |
type 2N |
VWF:FVIIIB mildly decreased |
VWF_Ag:100, VWF_RCo:74, FVIII_C:21, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00079018 |
0000058774 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB normal |
VWF_Ag:107, VWF_RCo:87, FVIII_C:50, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00079019 |
0000058775 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE); VWF:FVIIIB normal |
VWF_Ag:42, VWF_RCo:13, FVIII_C:78, VWF_CB:24, VWFpp:134 |
hr diffuse;lr relative decrease HMW |
10 |
MCMDM-1VWD |
Daniel J Hampshire |
00079020 |
0000058788 |
- |
Unknown |
- |
type 2N |
- |
VWF_Ag:137.5, VWF_RCo:89, FVIII_C:13, VWF_CB:-, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00079033 |
0000059721 |
- |
Familial |
- |
type 2A |
- |
VWF_Ag:41, VWF_RCo:25, FVIII_C:-, VWF_CB:25, VWFpp:- |
hr reduced |
- |
- |
Daniel J Hampshire |
00080156 |
0000059734 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB moderately decreased |
VWF_Ag:72, VWF_RCo:70, FVIII_C:28, VWF_CB:-, VWFpp:- |
lr normal |
- |
- |
Daniel J Hampshire |
00080169 |
0000059735 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB dramatically decreased |
VWF_Ag:66, VWF_RCo:52, FVIII_C:13, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00080170 |
0000059736 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB dramatically decreased |
VWF_Ag:82, VWF_RCo:83, FVIII_C:10, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00080171 |
0000059737 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB dramatically decreased |
VWF_Ag:130, VWF_RCo:104, FVIII_C:9, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00080172 |
0000059738 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB dramatically decreased |
VWF_Ag:38, VWF_RCo:25, FVIII_C:3, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00080173 |
0000059742 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB moderately decreased |
VWF_Ag:59, VWF_RCo:51, FVIII_C:40, VWF_CB:-, VWFpp:- |
lr relative decrease HMW |
- |
- |
Daniel J Hampshire |
00080177 |
0000059745 |
- |
Unknown |
- |
type 2N |
VWF:FVIIIB dramatically decreased |
VWF_Ag:29, VWF_RCo:22, FVIII_C:9, VWF_CB:23, VWFpp:- |
? |
- |
- |
Daniel J Hampshire |
00080182 |
0000066755 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB severely decreased |
VWF:Ag 79; VWF:RCo 81; FVIII:C 8 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00087228 |
0000078445 |
- |
Unknown |
- |
type 2A |
- |
VWF:Ag 17; VWF:RCo 22; FVIII:C 45 |
Absent HMW (low res);Reduced/absent satellite bands (high res) |
- |
- |
Daniel J Hampshire |
00100213 |
0000078449 |
- |
Familial, autosomal recessive |
- |
type 2N |
VWF:FVIIIB decreased |
VWF:Ag 46; VWF:RCo 42; FVIII:C 20 |
? (unknown; low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00100217 |
0000078458 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 17; VWF:RCo 10; FVIII:C 13; VWF:CB 6 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
2 |
MCMDM-1VWD |
Daniel J Hampshire |
00100221 |
0000078459 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 12; VWF:RCo 7; FVIII:C 14; VWF:CB 6; VWFpp 89 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
9 |
MCMDM-1VWD |
Daniel J Hampshire |
00100222 |
0000078460 |
- |
Unknown |
- |
type 2A |
2A(IIE); VWF:FVIIIB impaired |
VWF:Ag 22; VWF:RCo 13; FVIII:C 15; VWF:CB 8; VWFpp 97 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
13 |
MCMDM-1VWD |
Daniel J Hampshire |
00100223 |
0000078461 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 10; VWF:RCo 10; FVIII:C 8; VWF:CB 28; VWFpp 79 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
14 |
MCMDM-1VWD |
Daniel J Hampshire |
00100224 |
0000078467 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 13; VWF:RCo 11; FVIII:C 55 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
12 |
MCMDM-1VWD |
Daniel J Hampshire |
00100230 |
0000078468 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 8; VWF:RCo 4; FVIII:C 10; VWF:CB 2; VWFpp 81 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
2 |
MCMDM-1VWD |
Daniel J Hampshire |
00100231 |
0000078469 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 8; VWF:RCo 3; FVIII:C 22; VWF:CB 6; VWFpp 74 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
13 |
MCMDM-1VWD |
Daniel J Hampshire |
00100232 |
0000078472 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 31; VWF:RCo 12; FVIII:C 24; VWF:CB 12; VWFpp 105 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
1 |
MCMDM-1VWD |
Daniel J Hampshire |
00100235 |
0000078473 |
- |
Familial, autosomal dominant |
- |
type 2A |
2A(IIE) |
VWF:Ag 14; VWF:RCo 13; FVIII:C 25; VWF:CB 7; VWFpp 68 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
4 |
MCMDM-1VWD |
Daniel J Hampshire |
00100236 |
0000078475 |
- |
Unknown |
- |
type 2A |
2A(IIE) |
VWF:Ag 20; VWF:RCo 7; FVIII:C 31; VWF:CB 16 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
- |
- |
Daniel J Hampshire |
00100238 |
0000078514 |
- |
Unknown |
- |
type 2A |
2A(IIE) |
VWF:Ag 15.5; VWF:RCo 8; FVIII:C 15.3; VWF:CB 7.4; VWFpp 70 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
6 |
MCMDM-1VWD |
Daniel J Hampshire |
00100293 |
0000078515 |
- |
Unknown |
- |
type 2A |
2A(IIE) |
VWF:Ag 15.3; VWF:RCo 9.2; FVIII:C 35; VWF:CB 9; VWFpp 74 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
12 |
MCMDM-1VWD |
Daniel J Hampshire |
00100294 |
0000078516 |
- |
Unknown |
- |
type 2A |
2A(IIE) |
VWF:Ag 8; VWF:RCo 5; FVIII:C 18.1; VWF:CB 5; VWFpp 52 |
Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) |
9 |
MCMDM-1VWD |
Daniel J Hampshire |
00100296 |
0000078518 |
- |
Unknown |
- |
type 2A |
- |
VWF:Ag 15; VWF:RCo 7; FVIII:C 24; VWF:CB 8 |
? (unknown; low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00100298 |
0000081206 |
- |
Unknown |
- |
type 2A |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00103075 |
0000081208 |
- |
Familial, autosomal dominant |
- |
type 2A |
- |
VWF:Ag 13; VWF:RCo 12; FVIII:C 15 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00103077 |
0000081708 |
- |
Unknown |
- |
type 2M |
- |
VWF:Ag 10-39; VWF:RCo 6-20 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00103783 |
0000082013 |
- |
Unknown |
- |
type 2A |
- |
- |
? (unknown; low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104073 |
0000082014 |
- |
Familial, autosomal recessive |
- |
type 2A |
VWF:FVIIIB decreased |
VWF:Ag 7; VWF:RCo <3; FVIII:C 22 |
Increased dimer (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104074 |
0000082491 |
- |
Unknown |
- |
type 2A |
- |
VWF:Ag 39; VWF:RCo 20; FVIII:C 43 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104576 |
0000082492 |
- |
Unknown |
- |
type 2M |
- |
VWF:Ag 51; VWF:RCo 23; FVIII:C 91 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104577 |
0000082493 |
- |
Familial, autosomal dominant |
- |
type 2B |
- |
VWF:Ag 55; VWF:RCo 46; FVIII:C 57 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104578 |
0000082494 |
- |
Familial, autosomal dominant |
- |
type 2B |
- |
VWF:Ag 110; VWF:RCo 78; FVIII:C 41 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104579 |
0000082495 |
- |
Unknown |
- |
type 2B |
- |
VWF:Ag 68; VWF:RCo 84; FVIII:C 73 |
Normal (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00104580 |
0000123785 |
- |
Unknown |
- |
type 2B |
Platelet aggregation at 0.4 mg/mL ristocetin and mild thrombocytopenia |
VWF:Ag 55; VWF:RCo 32; FVIII:C 76 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00151391 |
0000123786 |
- |
Unknown |
- |
type 2B |
Platelet aggregation at 0.25 and 0.5 mg/mL ristocetin |
VWF:Ag 66; VWF:RCo 48; FVIII:C 75 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00151392 |
0000123787 |
- |
Familial, autosomal dominant |
- |
type 2A |
- |
VWF:Ag 30; VWF:RCo <5; FVIII:C 20 |
Absent HMW (low res);? (unknown; high res) |
- |
- |
Daniel J Hampshire |
00151393 |