Phenotypes for disease #03361

337 entries on 4 pages. Showing entries 1 - 100.
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Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Sub-type     

Phenotype details     

Protein     

Protein/Multimer_profile     

BleedingScore     

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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
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