Phenotypes for disease #00498 (VWD1 (von Willebrand disease, type 1 (VWD-1)), OMIM:193400)

223 entries on 3 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     

Individual ID     
0000020332 - Unknown - VWF:Ag 30; VWF:RCo 20; FVIII:C 80; VWF:CB 20; VWFpp 56 Normal (low res);Normal satellite bands (high res) 14 MCMDM-1VWD - Daniel J Hampshire 00024228
0000020368 - Familial, autosomal dominant - VWF:Ag 58 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00024246
0000020373 - Familial, autosomal dominant - - Increased dimer (low res);? (unknown; high res) - - - Daniel J Hampshire 00024251
0000020378 - Unknown - VWF:Ag 31; VWF:RCo 39; FVIII:C 104 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00024256
0000020381 - Familial, autosomal dominant - VWF_Ag:38, VWF_RCo:39, FVIII_C:-, VWF_CB:43, VWFpp:- ? - - - Daniel J Hampshire 00024259
0000020385 - Familial, autosomal dominant - VWF_Ag:53, VWF_RCo:52, FVIII_C:50, VWF_CB:38, VWFpp:51 hr normal;lr normal 14 MCMDM-1VWD - Daniel J Hampshire 00024266
0000020386 - Familial, autosomal dominant - VWF_Ag:38, VWF_RCo:29, FVIII_C:55, VWF_CB:22, VWFpp:57 hr normal;lr normal 6 MCMDM-1VWD - Daniel J Hampshire 00024267
0000027782 - Unknown - VWF_Ag:48, VWF_RCo:56, FVIII_C:70, VWF_CB:-, VWFpp:- lr normal - - - Daniel J Hampshire 00034386
0000027789 - Familial, autosomal dominant - VWF:Ag 59; VWF:RCo 44; FVIII:C 9; VWF:CB 38; VWFpp 76 Normal (low res);Normal satellite bands (high res) 6 MCMDM-1VWD VWF:FVIIIB impaired Daniel J Hampshire 00034393
0000028091 - Unknown - VWF_Ag:56, VWF_RCo:42, FVIII_C:39, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00037571
0000028092 - Familial, autosomal recessive - VWF_Ag:7, VWF_RCo:<6, FVIII_C:20, VWF_CB:-, VWFpp:- hr diffuse - - - Daniel J Hampshire 00037572
0000028093 - Familial, autosomal dominant - VWF_Ag:55, VWF_RCo:53, FVIII_C:132, VWF_CB:62, VWFpp:93 hr normal;lr normal 4 MCMDM-1VWD - Daniel J Hampshire 00037573
0000028099 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00037579
0000028101 - Unknown - VWF_Ag:37, VWF_RCo:38, FVIII_C:63, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00037581
0000028105 - Familial, autosomal dominant - VWF_Ag:97, VWF_RCo:60, FVIII_C:56, VWF_CB:77, VWFpp:118 hr normal;lr normal 3 MCMDM-1VWD - Daniel J Hampshire 00037586
0000028107 - Unknown - VWF:Ag 45; VWF:RCo 36; FVIII:C 91 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00037588
0000034259 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00046577
0000034261 - Unknown - VWF_Ag:9, VWF_RCo:<3, FVIII_C:15, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00046579
0000034653 - Familial, autosomal dominant - VWF:Ag 14; VWF:RCo 6; FVIII:C 3; VWF:CB 18; VWFpp 99 Normal (low res);Reduced/absent satellite bands (high res) 13 MCMDM-1VWD - Daniel J Hampshire 00047296
0000034654 - Familial, autosomal dominant - VWF:Ag 8; VWF:RCo 6; FVIII:C 8; VWF:CB 7; VWFpp 117 Normal (low res);Reduced/absent satellite bands (high res) 7 MCMDM-1VWD - Daniel J Hampshire 00047297
0000034655 - Familial, autosomal dominant - VWF:Ag 6; VWF:RCo 3; FVIII:C 14; VWF:CB 5; VWFpp 82 Normal (low res);Reduced/absent satellite bands (high res) 6 MCMDM-1VWD - Daniel J Hampshire 00047298
0000034659 - Unknown - VWF_Ag:29, VWF_RCo:35, FVIII_C:56, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00047302
0000034661 - Familial, autosomal dominant - VWF_Ag:38, VWF_RCo:59, FVIII_C:20, VWF_CB:49, VWFpp:68 hr normal;lr normal 4 MCMDM-1VWD - Daniel J Hampshire 00047304
0000034664 - Familial, autosomal dominant - VWF_Ag:59, VWF_RCo:56, FVIII_C:112, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00047307
0000036578 - Familial, autosomal dominant - VWF:Ag 28; VWF:RCo 29; FVIII:C 56; VWF:CB 31; VWFpp 73 Normal (low res);Normal satellite bands (high res) 7 MCMDM-1VWD - Daniel J Hampshire 00049807
0000036579 - Unknown - VWF:Ag 21; VWF:RCo 18; FVIII:C 26 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00049808
0000045415 - Unknown - VWF_Ag:49, VWF_RCo:52, FVIII_C:14, VWF_CB:57, VWFpp:63 hr normal;lr normal 10 MCMDM-1VWD - Daniel J Hampshire 00058825
0000045748 - Unknown - VWF:Ag 41; VWF:RCo 40; FVIII:C 21 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00059242
0000045749 - Familial, autosomal dominant - VWF:Ag 37; VWF:RCo 32; FVIII:C 28; VWF:CB 43; VWFpp 67 Normal (low res);Normal satellite bands (high res) 2 MCMDM-1VWD VWF:FVIIIB impaired Daniel J Hampshire 00059243
0000045750 - Familial, autosomal dominant - VWF:Ag 47; VWF:RCo 38; FVIII:C 40; VWF:CB 59; VWFpp 105 Normal (low res);Normal satellite bands (high res) 7 MCMDM-1VWD VWF:FVIIIB impaired Daniel J Hampshire 00059244
0000045752 - Familial - VWF_Ag:25, VWF_RCo:38, FVIII_C:15, VWF_CB:38, VWFpp:58 hr normal;lr normal 6 MCMDM-1VWD VWF:FVIIIB decreased Daniel J Hampshire 00059246
0000054298 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00074491
0000054299 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00074492
0000054300 - Unknown - VWF_Ag:40, VWF_RCo:30, FVIII_C:30, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00074493
0000054308 - Unknown - VWF_Ag:41, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00074506
0000058763 - Familial, autosomal dominant - VWF_Ag:51, VWF_RCo:42, FVIII_C:159, VWF_CB:60, VWFpp:86 hr normal;lr normal 8 MCMDM-1VWD - Daniel J Hampshire 00079008
0000058770 - Unknown - VWF_Ag:44, VWF_RCo:36, FVIII_C:85, VWF_CB:27, VWFpp:61 hr diffuse;lr ultra-large 2 MCMDM-1VWD - Daniel J Hampshire 00079010
0000058772 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079017
0000058776 - Familial - VWF_Ag:40, VWF_RCo:34, FVIII_C:52, VWF_CB:49, VWFpp:101 hr normal;lr normal 19 MCMDM-1VWD VWF:FVIIIB normal Daniel J Hampshire 00079021
0000058777 - Familial, autosomal dominant - VWF:Ag 11; VWF:RCo 7; FVIII:C 18; VWF:CB 6; VWFpp 127 Normal (low res);Normal satellite bands (high res) 18 MCMDM-1VWD VWF:FVIIIB normal Daniel J Hampshire 00079022
0000058778 - Unknown - VWF_Ag:49, VWF_RCo:49, FVIII_C:61, VWF_CB:42, VWFpp:- hr normal;lr normal 15 MCMDM-1VWD VWF:FVIIIB normal Daniel J Hampshire 00079023
0000058780 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079025
0000058781 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079026
0000058782 - Unknown - VWF_Ag:45, VWF_RCo:41, FVIII_C:52, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079027
0000058783 - Unknown - VWF:Ag 47; VWF:RCo 29; FVIII:C 44 ? (unknown; low res);? (unknown; high res) - - ABO blood group OO Daniel J Hampshire 00079028
0000058784 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079029
0000058785 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079030
0000058786 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079031
0000058787 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00079032
0000059718 - Familial, autosomal dominant - VWF_Ag:32, VWF_RCo:38, FVIII_C:115, VWF_CB:33, VWFpp:50 hr diffuse;lr normal 16 MCMDM-1VWD - Daniel J Hampshire 00080153
0000059720 - Familial, autosomal dominant - VWF_Ag:21, VWF_RCo:7, FVIII_C:68, VWF_CB:15, VWFpp:- hr diffuse;lr normal 1 MCMDM-1VWD - Daniel J Hampshire 00080155
0000059722 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- ? - - - Daniel J Hampshire 00080157
0000059723 - Familial, autosomal dominant - VWF:Ag 31; VWF:RCo 38; FVIII:C 76; VWF:CB 35; VWFpp 85 Normal (low res);Normal satellite bands (high res) - MCMDM-1VWD - Daniel J Hampshire 00080158
0000059725 - Familial - VWF_Ag:39, VWF_RCo:22, FVIII_C:-, VWF_CB:39, VWFpp:- lr normal - - - Daniel J Hampshire 00080160
0000059746 - Familial, autosomal dominant - VWF_Ag:36, VWF_RCo:28, FVIII_C:39, VWF_CB:20, VWFpp:84 hr diffuse;lr relative decrease HMW 9 MCMDM-1VWD VWF:FVIIIB moderately decreased Daniel J Hampshire 00080183
0000066756 - Familial, autosomal dominant - VWF_Ag:71, VWF_RCo:74, FVIII_C:148, VWF_CB:76, VWFpp:109 hr normal;lr normal 20 MCMDM-1VWD - Daniel J Hampshire 00087229
0000078446 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00100214
0000078447 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00100215
0000078450 - Unknown - VWF:Ag 30; VWF:RCo 30; VWF:CB 27 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100218
0000078451 - Unknown - VWF:Ag 38 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00100219
0000078462 - Familial, autosomal dominant - VWF:Ag 6-17; VWF:RCo <6-9; FVIII:C 12-28 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100225
0000078463 - Familial, autosomal dominant - VWF:Ag 9-15; VWF:RCo <6-10; FVIII:C 10-29 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100226
0000078464 - Familial, autosomal dominant - VWF:Ag 6-12; VWF:RCo <6-10; FVIII:C 15-31 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100227
0000078465 - Familial, autosomal dominant - VWF:Ag 5-12; VWF:RCo <6-12; FVIII:C 12-29 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100228
0000078466 - Familial, autosomal dominant - VWF:Ag 6-21; VWF:RCo <6-9; FVIII:C 12-35 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100229
0000078470 - Familial, autosomal dominant - VWF:Ag 14; VWF:RCo 16; FVIII:C 21; VWFpp 55 Normal (low res);Reduced/absent satellite bands (high res) - - - Daniel J Hampshire 00100233
0000078471 - Familial, autosomal dominant - VWF:Ag 12; VWF:RCo 8; FVIII:C 18; VWFpp 57 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00100234
0000078474 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00100237
0000078504 - Familial, autosomal dominant - VWF:Ag 10; VWF:RCo <20; FVIII:C 21 Relative decrease in HMW (low res);? (unknown; high res) - - - Daniel J Hampshire 00100283
0000078519 - Familial, autosomal dominant - VWF:Ag 28; VWF:RCo 17; FVIII:C 62 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00100299
0000078522 - Familial, autosomal recessive - VWF:Ag 5-9; VWF:RCo <13; FVIII:C 31-41 Relative decrease in HMW (low res);? (unknown; high res) - - - Daniel J Hampshire 00100302
0000081207 - Unknown - VWF:Ag 10 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00103076
0000081209 - Unknown - VWF:Ag 32; VWF:RCo 29; FVIII:C 46 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00103079
0000081709 - Unknown - VWF:Ag <15; VWF:RCo <15; FVIII:C <22 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103784
0000081711 - Familial, autosomal dominant - VWF:Ag 6; VWF:RCo <3; FVIII:C 16 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103786
0000081713 - Familial, autosomal dominant - VWF:Ag 8; VWF:RCo <3; FVIII:C 10 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103788
0000081714 - Unknown - VWF:Ag 5; VWF:RCo <3; FVIII:C 14 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103789
0000081715 - Familial, autosomal dominant - VWF:Ag 4; VWF:RCo <6; FVIII:C 12 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103790
0000081716 - Familial, autosomal dominant - VWF:Ag 8; VWF:RCo <6; FVIII:C 20 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103791
0000081717 - Familial, autosomal dominant - VWF:Ag 10; VWF:RCo 7; FVIII:C 29 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103792
0000081718 - Unknown - VWF:Ag 8; VWF:RCo <6; FVIII:C 12 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103793
0000081719 - Unknown - VWF:Ag 9; VWF:RCo 12 Ultra-large (low res);? (unknown; high res) - - - Daniel J Hampshire 00103794
0000081720 - Familial, autosomal dominant - VWF:Ag 9; VWF:RCo 6; FVIII:C 17; VWF:CB 7 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103796
0000081721 - Unknown - VWF:Ag 7; VWF:RCo 6; FVIII:C 13; VWF:CB 6 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103797
0000081722 - Unknown - VWF:Ag 7; VWF:RCo 7; FVIII:C 12; VWF:CB 6 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103798
0000081723 - Unknown - VWF:Ag 5; VWF:RCo <7; FVIII:C 10; VWF:CB 5 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103799
0000081724 - Unknown - VWF:Ag 12; VWF:RCo 10; FVIII:C 23; VWF:CB 13 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103800
0000081726 - Familial, autosomal dominant - VWF:Ag 6; VWF:RCo <10; VWF:CB 2 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103804
0000081728 - Familial, autosomal dominant - VWF:Ag 8; VWF:RCo <10; VWF:CB 1 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103806
0000081729 - Familial, autosomal dominant - VWF:Ag 15; VWF:RCo <10 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103807
0000081732 - Familial, autosomal dominant - VWF:RCo <10 Normal (low res);? (unknown; high res) - - - Daniel J Hampshire 00103811
0000081735 - Familial, autosomal dominant - VWF:Ag 5; VWF:RCo 3; FVIII:C 11; VWF:CB 4; VWFpp 77 Normal (low res);Reduced/absent satellite bands (high res) 10 MCMDM-1VWD - Daniel J Hampshire 00103813
0000081736 - Familial, autosomal dominant - VWF:Ag 3; VWF:RCo 3; FVIII:C 11; VWF:CB 4; VWFpp 124 Normal (low res);Normal satellite bands (high res) 12 MCMDM-1VWD - Daniel J Hampshire 00103814
0000081737 - Familial, autosomal dominant - VWF:Ag 80; VWF:RCo 108; FVIII:C 137; VWF:CB 174; VWFpp 472 Ultra-large (low res);Reduced/absent satellite bands (high res) 8 MCMDM-1VWD - Daniel J Hampshire 00103815
0000081738 - Familial, autosomal dominant - VWF:Ag 8; VWF:RCo 3; FVIII:C 16; VWF:CB 7; VWFpp 95 Normal (low res);Normal satellite bands (high res) 12 MCMDM-1VWD - Daniel J Hampshire 00103816
0000081739 - Familial, autosomal dominant - VWF:Ag 7; VWF:RCo 10; FVIII:C 7; VWF:CB 6; VWFpp 92 Normal (low res);Normal satellite bands (high res) 10 MCMDM-1VWD - Daniel J Hampshire 00103817
0000081740 - Familial, autosomal dominant - VWF:Ag 10; VWF:RCo 4; FVIII:C 19; VWF:CB 6; VWFpp 124 Normal (low res);Normal satellite bands (high res) 17 MCMDM-1VWD - Daniel J Hampshire 00103818
0000081741 - Unknown - VWF:Ag 10 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00103819
0000081742 - Unknown - VWF:Ag 14 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00103820
0000081743 - Unknown - VWF:Ag 7 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00103821
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