Disease #07215 (BDPLT (bleeding disorder, platelet type))

Official abbreviation BDPLT
Name bleeding disorder, platelet type
OMIM ID -
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene RASGRP2
Associated tissues -
Disease features -
Remarks -
Date created 2025-12-13 08:58:08 +01:00 (CET)
Date last edited N/A


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00470902 family PubMed: Ghevaert 2008 4-generation family, 5 affected (5F) F - United Kingdom (Great Britain) - - - - - BDPLT see paper; ..., mild thrombocytopenia, platelet anisocytosis, giant platelets - GP1BA, ITGB3 2 5 Johan den Dunnen
00470903 FamA PubMed: Gresele 2009 5-generation family, 18 affected (12F, 6M) F - Italy - - - - - BDPLT see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding ITGB3 ITGB3 1 18 Johan den Dunnen
00470904 Fam2 PubMed: Gresele 2009 2-generation family, affected mother/daughter F - Italy - - - - - BDPLT see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding ITGB3 ITGB3 1 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 ITGB3 ITGA2B, ITGB3 7 1 Johan den Dunnen
00470906 family PubMed: Kobayashi 2013 4-generation family, 10 affected (6F, 4M) F;M - Japan - - - - - BDPLT see paper; ..., thrombocytopenia, anisocytosis ITGB3 ITGB3 1 10 Johan den Dunnen
00471048 family PubMed: Canault 2014 4-generation family, 3 affected (sister/2 brothers) , unaffected heterozygous carrier parents/relatives F;M yes France - - - - - BDPLT see paper; ..., 18m-mucocutaneous bleeding, prolonged evere epistaxis, hematomas, bleeding after tooth extraction; female massive menorrhagia, chronic anemia - CORO1B, RASGRP2, SPTBN2, SRA1 4 3 Johan den Dunnen
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