Disease #03361

Official abbreviation VWD-2
Name von Willebrand disease, type 2 (VWD-2)
OMIM ID 613554
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 336
Phenotype entries for this disease 336
Associated with 1 gene VWF
Associated tissues -
Disease features -
Remarks -


Individuals

336 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00024253 - PubMed: Jorieux et al., 2000 - F ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00034052 - PubMed: Allen et al., 2000b; PubMed: Hampshire et al., 2013 Previously reported as AII:1 by Allen et al. (2000b). M yes Turkey - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00034053 - PubMed: Allen et al., 2000b; PubMed: Hampshire et al., 2013 Previously reported as BII:3 by Allen et al. (2000b). M yes Turkey - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00034055 - PubMed: Baronciani et al., 2007 - M no (Italy) - - 0 - - VWD-2 - VWF VWF 2 1 Daniel J Hampshire
00034389 - PubMed: Mazurier et al., 2002; PubMed: Hilbert et al., 2003 Previously reported as II2 by Mazurier et al. (2002). F no (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00034397 - PubMed: Ruggeri et al., 1982 - M ? Sweden - - 0 - - VWD-2 2A(IIC) VWF VWF 1 1 Daniel J Hampshire
00034515 - PubMed: Haberichter et al., 2009 - F ? (United States) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00034516 - PubMed: Armitage & Rizza, 1979 - M ? (United Kingdom (Great Britain)) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00037575 - PubMed: Gaucher et al., 1998 - M yes Japan - - 0 - - VWD-2 2A(IIC) VWF VWF 1 1 Daniel J Hampshire
00037576 - PubMed: Schneppenheim et al., 1995 - F ? Germany - - 0 - - VWD-2 2A(IIC) VWF VWF 1 1 Daniel J Hampshire
00037578 - PubMed: Lanke et al., 2008a - M ? Pakistan - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00037584 - PubMed: Gaucher et al., 1994 - F yes (France) - - 0 - - VWD-2 2A(IIC) VWF VWF 1 1 Daniel J Hampshire
00037585 - PubMed: Gaucher et al., 1994 - F no (France) - - 0 - - VWD-2 2A(IIC) VWF VWF 2 1 Daniel J Hampshire
00047300 - PubMed: Casonato et al., 2003 - M ? (Italy) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047303 - PubMed: Hilbert et al., 2006 - M ? France - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047305 - Unpublished - ? ? (France) - - 0 - - VWD-2 VWF:FVIIIB moderately decreased VWF VWF 2 1 Daniel J Hampshire
00047306 - PubMed: Montgomery et al., 1982; PubMed: Kroner et al., 1996 - F ? (United States) - - 0 - - VWD-2 VWF:FVIIIB moderately decreased VWF VWF 4 1 Daniel J Hampshire
00047308 - PubMed: Gu et al., 1997 - M no China - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00047309 - PubMed: Allen et al., 2000a; PubMed: Hampshire et al., 2013 Previously reported as AII:2 by Allen et al. (2000a). F yes Turkey - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00047316 - PubMed: Schneppenheim et al., 1996b; PubMed: Schneppenheim et al., 2004 Previously reported as 01 by Schneppenheim et al. (1996b). M ? Poland - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047348 - PubMed: Jorieux et al., 2000 Individual is the first cousin of individual 00024253 F ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047349 - PubMed: Enayat et al., 2010 - F ? Iran - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00047350 - PubMed: Enayat et al., 2010 - F ? United Kingdom (Great Britain) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047351 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047352 - PubMed: Nesbitt et al., 1999 - ? ? (United Kingdom (Great Britain)) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047356 - PubMed: Wise et al., 1993 - F ? (United States) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00047403 - PubMed: Mazurier et al., 1990a - F yes France - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00047404 - PubMed: Hilbert et al., 2004b - F ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047405 - PubMed: Schneppenheim et al., 2004 - F ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047817 - Hilbert et al., 1999 Reported in an abstract at the XVIIth ISTH Congress ? ? China - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00047818 - PubMed: Hilbert et al., 2004b - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00047819 - PubMed: Melo-Nava et al., 2007 - M no Mexico - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058551 - Unpublished - ? ? (Germany) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058552 - Unpublished - F ? United States - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058553 - PubMed: Mazurier et al., 1990b; PubMed: Gaucher et al., 1991b Previously reported as III1 by Mazurier et al. (1990b). M no Portugal - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00058554 - Unpublished - ? ? (Turkey) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058826 - Unpublished - ? ? (Brazil) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058827 - PubMed: Corrales et al., 2009 - ? ? (Spain) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00058828 - PubMed: Corrales et al., 2009 - ? ? (Spain) - - 0 - - VWD-2 - VWF VWF 2 1 Daniel J Hampshire
00059019 - PubMed: López-Fernández et al., 1992 - F no Spain - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059020 - Unpublished - ? ? (France) - - 0 - - VWD-2 VWF:FVIIIB moderately decreased VWF VWF 1 1 Daniel J Hampshire
00059090 - PubMed: Bowen et al., 1998 - ? ? (United Kingdom (Great Britain)) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00059091 - Unpublished - ? ? (Argentina) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00059092 - Unpublished - ? ? (Spain) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00059226 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059227 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059228 - PubMed: Schneppenheim et al., 1996b - M ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059229 - PubMed: Schneppenheim et al., 1996b - F ? (Germany) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059231 - PubMed: Eikenboom et al., 1993 - F no (Netherlands) - - 0 - - VWD-2 - VWF VWF 2 1 Daniel J Hampshire
00059234 - PubMed: Mazurier et al., 1994 - M ? (France) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00059236 - PubMed: Peerlinck et al., 1992 - F ? (Belgium) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00059238 - PubMed: Montgomery et al., 1982; PubMed: Kroner et al., 1991; PubMed: Kroner et al., 1996 - F no (United States) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 4 1 Daniel J Hampshire
00059245 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M no Netherlands - - 0 - - VWD-2 2A(sm); VWF:FVIIIB impaired VWF VWF 2 1 Daniel J Hampshire
00074494 - Unpublished - ? ? (Spain) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00074495 - PubMed: Jorieux et al., 2000 - F ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00074504 - PubMed: Jorieux et al., 1998 - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00079004 - PubMed: Mazurier, 1992 - F no (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00079006 - PubMed: Mazurier, 1992 - F yes (France) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00079018 - PubMed: Casais et al., 2006 - M ? (Argentina) - - 0 - - VWD-2 VWF:FVIIIB mildly decreased VWF VWF 1 1 Daniel J Hampshire
00079019 - PubMed: Casais et al., 2006 - M ? (Argentina) - - 0 - - VWD-2 VWF:FVIIIB normal VWF VWF 1 1 Daniel J Hampshire
00079020 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008; PubMed: Hickson et al., 2010 - F no Italy - - 0 - - VWD-2 2A(IIE); VWF:FVIIIB normal VWF VWF 2 1 Daniel J Hampshire
00079033 - Unpublished - ? ? (Brazil) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00080156 - Unpublished - ? ? (Netherlands) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00080169 - PubMed: Hilbert et al., 2003 - F ? (France) - - 0 - - VWD-2 VWF:FVIIIB moderately decreased VWF VWF 1 1 Daniel J Hampshire
00080170 - PubMed: Hilbert et al., 2003 - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB dramatically decreased VWF VWF 2 1 Daniel J Hampshire
00080171 - PubMed: Hilbert et al., 2003 - F ? (France) - - 0 - - VWD-2 VWF:FVIIIB dramatically decreased VWF VWF 2 1 Daniel J Hampshire
00080172 - PubMed: Hilbert et al., 2003 - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB dramatically decreased VWF VWF 1 1 Daniel J Hampshire
00080173 - PubMed: Hilbert et al., 2003 - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB dramatically decreased VWF VWF 2 1 Daniel J Hampshire
00080177 - PubMed: Hilbert et al., 2003 - M ? (France) - - 0 - - VWD-2 VWF:FVIIIB moderately decreased VWF VWF 2 1 Daniel J Hampshire
00080182 - Unpublished - ? ? (Netherlands) - - 0 - - VWD-2 VWF:FVIIIB dramatically decreased VWF VWF 1 1 Daniel J Hampshire
00087228 - PubMed: Hilbert et al., 2004c - M ? France - - 0 - - VWD-2 VWF:FVIIIB severely decreased VWF VWF 2 1 Daniel J Hampshire
00100213 - PubMed: Baillod et al., 1995 - M ? Macedonia - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00100217 - PubMed: Nesbitt et al., 1999 - ? ? (United Kingdom (Great Britain)) - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 2 1 Daniel J Hampshire
00100221 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M no Czech Republic - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100222 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Czech Republic - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100223 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Czech Republic - - 0 - - VWD-2 2A(IIE); VWF:FVIIIB impaired VWF VWF 1 1 Daniel J Hampshire
00100224 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Czech Republic - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100230 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Italy - - 0 - - VWD-2 2A(IIE) VWF VWF 2 1 Daniel J Hampshire
00100231 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Italy - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100232 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F ? Italy - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100235 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M ? Czech Republic - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100236 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Sweden - - 0 - - VWD-2 2A(IIE) VWF VWF 2 1 Daniel J Hampshire
00100238 - PubMed: Schneppenheim et al., 2010 - ? ? (Germany) - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100293 - PubMed: Pérez-Rodríguez et al., 2009 - ? ? (Spain) - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100294 - PubMed: Pérez-Rodríguez et al., 2009 - ? ? (Spain) - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100296 - PubMed: Pérez-Rodríguez et al., 2009 - ? ? (Spain) - - 0 - - VWD-2 2A(IIE) VWF VWF 1 1 Daniel J Hampshire
00100298 - Unpublished - ? ? (Netherlands) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00103075 - PubMed: Gaucher et al., 1997 - ? ? (France) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00103077 - PubMed: James et al., 2004 - F ? Philippines - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00103783 - Unpublished - ? ? (France) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00104073 - PubMed: Gaucher et al., 1997; PubMed: de Romeuf et al., 1997 - ? ? (France) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00104074 - PubMed: Allen et al., 2000a; PubMed: Hampshire et al., 2013 Previously reported as BII:1 by Allen et al. (2000a). F yes Turkey - - 0 - - VWD-2 VWF:FVIIIB decreased VWF VWF 1 1 Daniel J Hampshire
00104576 - PubMed: Hommais et al., 2006a - ? ? France - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00104577 - Unpublished - ? ? (United States) - - 0 - - VWD-2 - VWF VWF 2 1 Daniel J Hampshire
00104578 - PubMed: Holmberg et al., 1986; PubMed: Holmberg et al., 1993 Previously reported as III:1 by Holmberg et al. (1986). M no Sweden - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00104579 - PubMed: Holmberg et al., 1993 - F ? Germany - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00104580 - PubMed: Holmberg et al., 1993 - F ? Bermuda - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
00151391 - PubMed: Roland et al., 2006 - M ? (Canada) - - 0 - - VWD-2 Platelet aggregation at 0.4 mg/mL ristocetin and mild thrombocytopenia VWF VWF 1 1 Daniel J Hampshire
00151392 - PubMed: Rabinowitz et al., 1993 - F ? Italy - - 0 - - VWD-2 Platelet aggregation at 0.25 and 0.5 mg/mL ristocetin VWF VWF 1 1 Daniel J Hampshire
00151393 - PubMed: Lavergne et al., 1992 - M ? (France) - - 0 - - VWD-2 - VWF VWF 1 1 Daniel J Hampshire
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