Disease #02126 (VWD3 (von Willebrand disease, type 3 (VWD-3)), OMIM:277480)

Official abbreviation VWD3
Name von Willebrand disease, type 3 (VWD-3)
OMIM ID 277480
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 128
Phenotype entries for this disease 124
Associated with 1 gene VWF
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

128 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00024230 - PubMed: Hampshire et al., 2013 - F yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024231 - PubMed: Corrales et al., 2009 - ? no (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024232 - PubMed: Baronciani et al., 2003 - M ? Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024247 - PubMed: Hampshire et al., 2013 - M yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024248 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC20 by Baronciani et al. (2000) F ? India - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024249 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - ? ? China - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024250 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC2 by Baronciani et al. (2000) F ? Italy - - - - - VWD3 - VWF VWF 3 1 Daniel J Hampshire
00024252 - PubMed: Baronciani et al., 2003 - F ? Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00024254 - PubMed: Kakela et al., 2006 - ? ? (United States) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00024255 - PubMed: Corrales et al., 2009 - ? yes (Spain) - - - - - VWD3 - VWF VWF 3 1 Daniel J Hampshire
00024257 - PubMed: Baronciani et al., 2003 - M yes India - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00024258 - PubMed: Baronciani et al., 2003 - F no Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00024260 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 Previously reported as KÖ by Anvret et al. (1992) and as IC6 by Zhang et al. (1994). F no (Sweden) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00024261 - PubMed: Corrales et al., 2009 - ? ? (Spain) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00034048 - PubMed: Corrales et al., 2011 - F ? (Spain) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00034049 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC7 by Baronciani et al. (2000) F ? Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034050 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC1 by Baronciani et al. (2000) F ? Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00034051 - PubMed: Baronciani et al., 2003 - F ? Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034054 - PubMed: Allen et al., 2000b; PubMed: Hampshire et al., 2013 Previously reported as CII:6 by Allen et al. (2000b). M yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034056 - PubMed: Gadisseur et al., 2007 - M yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034057 - PubMed: Xie et al., 2007 - F no China - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00034058 - PubMed: Schneppenheim et al., 1994 - F ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034388 - Unpublished - M ? (Netherlands) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034390 - PubMed: Bahnak et al., 1991 - F no (France) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034391 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC14 by Baronciani et al. (2000) F yes Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034392 - PubMed: Baronciani et al., 2003 - M no Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00034394 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC8 by Baronciani et al. (2000) M yes Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034395 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC17 by Baronciani et al. (2000) M yes India - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034396 - PubMed: Schneppenheim et al., 1994 - F ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00034398 - Unpublished - M ? (France) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00037574 - Unpublished - ? ? (Turkey) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00037577 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as ML by Anvret et al. (1992). M ? (Sweden) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00037583 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1992; PubMed: Zhang et al., 1994 Previously reported as IGN by Anvret et al. (1992). F ? Sweden - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00037587 - PubMed: Baronciani et al., 2003 - F no India - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00037589 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC12 by Baronciani et al. (2000) M yes Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00046576 - PubMed: Baronciani et al., 2003 - F no Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00046578 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC13 by Baronciani et al. (2000) F yes Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00047299 - PubMed: Baronciani et al., 2003 - F no Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00047848 - PubMed: Schneppenheim et al., 1994 - ? ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00047852 - PubMed: Schneppenheim et al., 1994 - F ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00047853 - PubMed: Schneppenheim et al., 1994 - ? ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00047854 - PubMed: Schneppenheim et al., 1994 - ? ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00047855 - PubMed: Schneppenheim et al., 1994 - ? ? Germany - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049065 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as ALE by Anvret et al. (1992). F no (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049066 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as SA by Anvret et al. (1992). M ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049067 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1992; PubMed: Zhang et al., 1994 Previously reported as RB by Anvret et al. (1992). M ? Sweden - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00049068 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1992; PubMed: Zhang et al., 1994 Previously reported as TN by Anvret et al. (1992). M ? Finland - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00049069 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as ES by Anvret et al. (1992). F yes (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049070 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as AMJ by Anvret et al. (1992). F ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049071 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as BG by Anvret et al. (1992). F ? (Sweden) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00049795 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as MJ by Anvret et al. (1992). F ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049796 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as AKP by Anvret et al. (1992). F ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049797 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as SE by Anvret et al. (1992). M ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049798 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as AJ by Anvret et al. (1992). F ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049799 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as NL by Anvret et al. (1992). M ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049800 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994 Previously reported as SA by Anvret et al. (1992). M ? (Sweden) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00049806 - PubMed: Zhang et al., 1993; PubMed: Zhang et al., 1994 Previously reported as I-II:1 by Zhang et al. (1993). M yes Finland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00056444 - Unpublished - ? ? Italy - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057217 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057218 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057219 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057220 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057221 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057222 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057223 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00057224 - Unpublished - ? ? Poland - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00058550 - PubMed: Hampshire et al., 2013 - M yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00059021 - PubMed: Corrales et al., 2010 - ? yes (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00074505 - PubMed: Hampshire et al., 2013 - M no Turkey - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00079016 - PubMed: Hampshire et al., 2013 - M yes Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00079024 - PubMed: Hickson et al., 2010 - F no Czech Republic - - - - - VWD3 - VWF VWF 3 1 Daniel J Hampshire
00080159 - PubMed: Baronciani et al., 2003 - M yes Italy - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00100216 - PubMed: Baronciani et al., 2003 - F no India - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00100220 - PubMed: Hampshire et al., 2013 - M no Turkey - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00100308 - Unpublished - ? ? (Spain) - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00103080 - Unpublished - F yes United Kingdom (Great Britain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00147078 - PubMed: Acquila et al., 2009 2-generation family, 1 affected, unaffected heterozygous carrier mother (father not available) F no (Italy) - - - - - VWD3 Refer to paper VWF VWF 2 1 Daniel J Hampshire
00151400 - PubMed: Corrales et al., 2009 - ? yes (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00154938 - PubMed: Baronciani et al., 2003 - F yes Iran - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00154939 - PubMed: Casaña et al., 2000 - M no (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00154940 - PubMed: Casaña et al., 2000 - F yes (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00154941 - Unpublished - ? ? (Spain) - - - - - VWD3 - VWF VWF 1 1 Daniel J Hampshire
00163818 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC3 by Baronciani et al. (2000) F no Italy - - - - - VWD3 - VWF VWF 2 1 Daniel J Hampshire
00235374 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235375 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235376 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 2 1 Irene Corrales Insa
00235377 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235378 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235380 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235381 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235382 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 3 1 Irene Corrales Insa
00235383 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 2 1 Irene Corrales Insa
00235384 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235385 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235386 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 4 1 Irene Corrales Insa
00235399 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00235400 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 1 1 Irene Corrales Insa
00238993 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 3 1 Irene Corrales Insa
00238994 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - VWD3 - VWF VWF 3 1 Irene Corrales Insa
00238995 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - VWD3 - VWF VWF 2 1 Irene Corrales Insa
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