All individuals with variants in gene ITGA2B

179 entries on 2 pages. Showing entries 1 - 100.
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Disease     
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00470775 family PubMed: Newman 1991 family - - Israel Arab - - - - GT - 1 1 Johan den Dunnen
00470776 family PubMed: Newman 1991 family - - Israel Arab - - - - GT - 1 1 Johan den Dunnen
00470777 family PubMed: Newman 1991 family - - Israel Arab - - - - GT - 1 1 Johan den Dunnen
00470783 GT02 PubMed: Peretz 2006 - F - India - - - - - GT - 1 1 Johan den Dunnen
00470784 GT06 PubMed: Peretz 2006 - F - India - - - - - GT - 1 1 Johan den Dunnen
00470785 GT12 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470786 GT14 PubMed: Peretz 2006 family, 2 affected sibs F - India - - - - - GT - 1 2 Johan den Dunnen
00470787 GT22 PubMed: Peretz 2006 - F - India - - - - - GT - 1 1 Johan den Dunnen
00470788 GT24 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470789 GT26 PubMed: Peretz 2006 - F - India - - - - - GT - 1 1 Johan den Dunnen
00470790 GT27 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470791 GT28 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470792 GT29 PubMed: Peretz 2006 - F - India - - - - - GT - 2 1 Johan den Dunnen
00470793 GT38 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470794 GT41 PubMed: Peretz 2006 - M - India - - - - - GT - 1 1 Johan den Dunnen
00470795 GT43 PubMed: Peretz 2006 - F - India - - - - - GT - 1 1 Johan den Dunnen
00470828 PV PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., moderate 2 1 Johan den Dunnen
00470829 PF PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470830 LF PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470831 DRP PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., mild 2 1 Johan den Dunnen
00470832 FF PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470833 MR PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., moderate 2 1 Johan den Dunnen
00470834 GM PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., mild 3 1 Johan den Dunnen
00470835 PL PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470836 FN PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., mild 1 1 Johan den Dunnen
00470837 BM PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., mild 1 1 Johan den Dunnen
00470838 LRI PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470839 VA PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470840 ME PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., severe 1 1 Johan den Dunnen
00470841 CT PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., mild 1 1 Johan den Dunnen
00470842 ER PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470843 CE PubMed: D'Andrea 2002 patient F - Italy - - - - - GT see paper; ..., moderate 1 1 Johan den Dunnen
00470844 ZM PubMed: D'Andrea 2002 patient M - Italy - - - - - GT see paper; ..., mild 1 1 Johan den Dunnen
00470850 CabGT-1 PubMed: Jallu 2010 patient - - China - - - - - GT - 1 1 Johan den Dunnen
00470851 CabGT-2 PubMed: Jallu 2010 patient - - France - - - - - GT - 2 1 Johan den Dunnen
00470852 CabGT-3 PubMed: Jallu 2010 patient - - France - - - - - GT - 2 1 Johan den Dunnen
00470853 CabGT-4 PubMed: Jallu 2010 carrier - - France - - - - - GT - 1 1 Johan den Dunnen
00470854 CabGT-5 PubMed: Jallu 2010 patient - - France - - - - - GT - 1 1 Johan den Dunnen
00470855 CabGT-6 PubMed: Jallu 2010 patient - - France - - - - - GT - 2 1 Johan den Dunnen
00470856 CabGT-7 PubMed: Jallu 2010 patient - - France - - - - - GT - 1 1 Johan den Dunnen
00470857 CabGT-8 PubMed: Jallu 2010 patient - - France - - - - - GT - 1 1 Johan den Dunnen
00470858 CabGT-9 PubMed: Jallu 2010 patient - - Kuwait - - - - - GT - 1 1 Johan den Dunnen
00470859 CabGT-10 PubMed: Jallu 2010 patient - - France Africa-N - - - - GT - 1 1 Johan den Dunnen
00470860 CabGT-11 PubMed: Jallu 2010 patient - - France - - - - - GT - 1 1 Johan den Dunnen
00470861 CabGT-12 PubMed: Jallu 2010 patient - - France - - - - - GT - 2 1 Johan den Dunnen
00470862 CabGT-13 PubMed: Jallu 2010 patient - - Japan - - - - - GT - 1 1 Johan den Dunnen
00470863 CabGT-14 PubMed: Jallu 2010 patient - - France Africa-N - - - - GT - 1 1 Johan den Dunnen
00470864 CabGT-15 PubMed: Jallu 2010 carrier - - France - - - - - GT - 1 1 Johan den Dunnen
00470865 CabGT-16 PubMed: Jallu 2010 patient - - France Africa-N - - - - GT - 1 1 Johan den Dunnen
00470866 CabGT-17 PubMed: Jallu 2010 patient - - France Africa-N - - - - GT - 1 1 Johan den Dunnen
00470867 CabGT-18 PubMed: Jallu 2010 patient - - France - - - - - GT - 2 1 Johan den Dunnen
00470877 patient PubMed: Vinciguerra 1996, PubMed: Negrier 1998 2-generation family, 1 affected, unaffected parents M yes Tunisia - - - - - GT see paper; ..., epistaxes, gingival bleedings, ecchymoses 1 1 Johan den Dunnen
00470879 Fam2Pat2/3 PubMed: Vinciguerra 1995 2-generation family, 2 affected brothers, unaffected heterozygous carrier father M - France - - - - - GT - 1 2 Johan den Dunnen
00470881 JV PubMed: Nurden 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada Philippines - - - - GT see paper; ..., 9m-severe bruising, epistaxis 3 1 Johan den Dunnen
00470882 Fam1PatLW PubMed: Basani 2000 family F - United States Mennonite - - - - GT see pper; ..., 2y-recurrent epistaxis/purpura 1 1 Johan den Dunnen
00470883 Fam2PatGW PubMed: Basani 2000 family M - United States Mennonite - - - - GT see paper; ..., 4y-excessive bruising 1 1 Johan den Dunnen
00470884 Fam3PatJF PubMed: Basani 2000 family M - Netherlands - - - - - GT see paper; ..., 1d-epistaxis; excessive bruising, gastric hemorrhage, hematuria 1 1 Johan den Dunnen
00470885 Chinese-14 PubMed: Basani 2000 family M - China - - - - - GT see paper; ..., 3y-epistaxis, gingival hemorrhage, purpura 2 1 Johan den Dunnen
00470886 MT PubMed: Tadokoro 1998 - F no Japan - - - - - GT see paper; ..., life-long history moderate mucocutaneous bleeding 1 1 Johan den Dunnen
00470887 MS PubMed: Tadokoro 1998 - F no Japan - - - - - GT see paper; ... 2 1 Johan den Dunnen
00470894 PatM PubMed: Mitchell 2003 2-generation family, 1 affected, unaffected parents - no Canada;Puerto Rico - - - - - GT see paper; ..., bleeding 2 1 Johan den Dunnen
00470895 PatC PubMed: Mitchell 2003 2-generation family, 1 affected son/father, unaffected heterozygous carrier mother M - Italy - - - - - GT see paper; ..., bleeding; strong family history 2 2 Johan den Dunnen
00470896 PatC-father PubMed: Mitchell 2003 father M - Italy - - - - - GT see paper; ..., bleeding 1 1 Johan den Dunnen
00470897 patient PubMed: Gonzalez-Manchon 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - GT see paper; ..., from birth history of bleeding episodes, unprovoked bruising 2 1 Johan den Dunnen
00470898 patient PubMed: Ruan 1998 3-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - GT see paper; ..., frequent mucocutaneous bleeding, transfusion being required shortly after birth; absence of platelet aggregation in response to ADP/epinephrine/thrombin/collagen; normal platelet agglutination with ristocetin; <0.02 normal platelet content of GPIIb–IIIa 2 1 Johan den Dunnen
00470899 family PubMed: Scott 1998 2-generation family, 2 affected sibs - - United States Hispanic - - - - GT see paper; ..., lifelong mucocutaneous bleeding, normal platelet count, prolonged bleeding time, absent platelet aggregation in response to multiple agonists 2 2 Johan den Dunnen
00470905 patient PubMed: Jayo 2010 2-generation family, 1 affected, unaffected non-carrier parents F - Spain - - - - - BDPLT see paper; ..., severe bleeding phenotype, defective platelet aggregation/adhesion 5 1 Johan den Dunnen
00470913 Pat2(Kno) PubMed: Peterson 2010 2-generation family, 1 affected, unaffected heterozygous carrier father - - United States - - - - - FMAIT see paper; ..., birth-33w vacuum (premature labor), blood PLT count of 61×10+9/L, petechial hemorrhages 1 1 Johan den Dunnen
00470924 patient PubMed: Noris 1995 2-generation family, 1 affected, unaffected heterozygous carrier father F - Italy - - - - - FMAIT2 see paper; ..., birth-petechiae, extensive hematomas, no hepatomegaly, no splenomegaly, no nfections, no neurologic damage, platelet count 6×10+9/L 1 1 Johan den Dunnen
00470925 patient PubMed: Poles 2013 2-generation family, 1 affected, unaffected heterozygous carrier father - - Ireland - - - - - FMAIT2 see paper; ..., severe thrombocytopenia, platelet count 17×10+9/L, petechiae 1 1 Johan den Dunnen
00470926 patient - - - - - - - - - - FMAIT2 - 1 1 Johan den Dunnen
00470927 patient - - - - - - - - - - FMAIT2 - 1 1 Johan den Dunnen
00470928 patient - - - - - - - - - - FMAIT2 - 1 1 Johan den Dunnen
00470940 patient PubMed: Honda 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - GT see paper; ..., easy bruising since birth, evere nasal bleeding irregular intervals; red cell transfusions required several times; menorrhagia since first menstruation 1 1 Johan den Dunnen
00470941 KO PubMed: Kosaka 2025 - - - Japan - - - - - GT1 - 1 1 Johan den Dunnen
00470942 FamI PubMed: Schlegel 1995 7-generation family, 10 affected (4F, 6M), unaffected heterozygous carrier parents/relatives F;M - France gypsy-Manouche - - - - GT - 1 10 Johan den Dunnen
00470943 FamII PubMed: Schlegel 1995 - - - France gypsy-Manouche - - - - GT - 1 1 Johan den Dunnen
00470946 patient;GT4 PubMed: Robert 2011, PubMed: Nurden 2015 patient, no affected relatives M yes France gypsy - - - - GT see paper; ..., severe bleeding, petechia and hematomas since childbirth, also fever and infections since childbirth; absent platelet aggregation; WHO4 bleeding score 4; moderate immunodeficiency. 1 1 Johan den Dunnen
00470950 GT8 PubMed: Nurden 2015 patient, no affected relatives M yes France - 82y - - - GT 82y-deceased (lung cancer with brain metastasis); easy bruising, epistaxis, severe gastrointestinal bleeding in later life; absent platelet aggregation; WHO4 bleeding score 4 1 1 Johan den Dunnen
00470951 AP;GT10 PubMed: Perichaud 1998, PubMed: Nurden 2015 patient, no affected relatives M no Italy - - - - - GT mild lifelong bleeding; residual platelet aggregation; WHO4 bleeding score 1 5 1 Johan den Dunnen
00470952 GT11 PubMed: Nurden 2015 patient, no affected relatives F no France;Germany - - - - - GT severe epistaxis, gingival bleeding, menorrhagia, spontaneous bruising; absent platelet aggregation; WHO4 bleeding score 3; skeletal defects 2 1 Johan den Dunnen
00470954 GT13 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - GT petechiae, moderate bleeding syndrome; absent platelet aggregation; 2 1 Johan den Dunnen
00470955 GT14 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - GT purpura, moderate cutaneous bleeding from birth, prolonged bleeding after tooth removal; absent platelet aggregation; WHO4 bleeding score 2 2 1 Johan den Dunnen
00470956 GT15 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - GT bleeding from birth, ecchymoses, petechial, severe epistaxis, bleeding from teeth and gums. hematomas from exercise (ballet).; absent platelet aggregation; WHO4 bleeding score 3 2 1 Johan den Dunnen
00470957 GT18 PubMed: Nurden 2015 patient, no affected relatives M no France - - - - - GT mild ecchymoses, easy bruising; residual platelet aggregation (high dose ADP, coll); WHO4 bleeding score 1 2 1 Johan den Dunnen
00470958 GT19 PubMed: Nurden 2015 2-generation family, affected sister/brother/cousin F yes France gypsy-Manouche - - - - GT menorraghia, epistaxis, easy bruising and gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2 1 3 Johan den Dunnen
00470959 GT20 PubMed: Nurden 2015 patient, no affected relatives M no France - - - - - GT epistaxis, occasional hematomas, hemarthrosis (knee); absent platelet aggregation; WHO4 bleeding score 1 1 1 Johan den Dunnen
00470960 GT21 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - GT epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 3 2 1 Johan den Dunnen
00470961 GT22 PubMed: Nurden 2015 - M no France - - - - - GT easy bruising, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2 2 1 Johan den Dunnen
00470963 GT24 PubMed: Nurden 2015 - F yes France gypsy-Manouche - - - - GT post-traumatic hematomas and epistaxis, menorrhagia (linked to a uterine fibroma); absent platelet aggregation; WHO4 bleeding score 3 1 1 Johan den Dunnen
00470964 GT25 PubMed: Nurden 2015 patient, no affected relatives M no France - 81y - - - GT 81y-deceased; lifelong bleeding disorder - severe when young, gastrointestinal bleedings in later life; absent platelet aggregation; WHO4 bleeding score 4 2 1 Johan den Dunnen
00470965 GT26 PubMed: Nurden 2015 patient, no affected relatives M yes France - - - - - GT severe epistaxis, easy bruising; much reduced platelet aggregation; WHO4 bleeding score 2; Hirschprung's disease 1 1 Johan den Dunnen
00470966 GT27 PubMed: Nurden 2015 patient, no affected relatives F no France - 84y - - - GT 84y-deceased; relatively moderate when young (ecchymose, bleeding after trauma); later severe gastrointestinal bleedings; absent platelet aggregation; WHO4 bleeding score 4 2 1 Johan den Dunnen
00470967 GT28 PubMed: Nurden 2015 2-generation family, 2 affected sisters M yes France;Syria - 36 - - - GT absent platelet aggregation; 1 2 Johan den Dunnen
00470969 GT31 PubMed: Nurden 2015 patient, no affected relatives F no United States - 13 - - - GT life-threatening bleeding at onset of menses and in later life. rare gum bleeding and epistaxis; absent platelet aggregation; WHO4 bleeding score 4 2 1 Johan den Dunnen
00470971 GT34 PubMed: Nurden 2015 patient, no affected relatives M - United States - - - - - GT severe life-threatening bleeding especially epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4 2 1 Johan den Dunnen
00470972 GT35a PubMed: Nurden 2015 2-generation family, 2 affected sisters F no United States - - - - - GT severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant 1 2 Johan den Dunnen
00470973 GT36a PubMed: Nurden 2015 2-generation family, 3 affected (2F, M) F no Spain - - - - - GT mild phenotype with epistaxis, gingivorrhagia, bleeding at onset of menses; absent platelet aggregation; WHO4 bleeding score 2 2 3 Johan den Dunnen
00470975 GT39a PubMed: Nurden 2015 2-generation family, affected sister/brither F yes Switzerland - - - - - GT significant bruising, severe epistaxis (1 episode with shock), major bleeding after tonsillectomy, severe menorrhagia; absent platelet aggregation; WHO4 bleeding score 4 1 2 Johan den Dunnen
00470976 GT40 PubMed: Nurden 2015 - F yes Canada;Pakistan - - - - - GT epistaxis, mouth bleeds, easy bruising. heavy bleeding at menarche.; absent platelet aggregation; WHO4 bleeding score 3 1 1 Johan den Dunnen
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