Phenotypes for disease #02126 (VWD-3 (von Willebrand disease, type 3 (VWD-3)), OMIM:277480)

124 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype 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
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