Disease #03260 (macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM:613112)

Official abbreviation -
Name macrothrombocytopenia, autosomal dominant, TUBB1-related
OMIM ID 613112
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene TUBB1
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

2 entries on 1 page. Showing entries 1 - 2.
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00024930 - PubMed: Kunishima 2009, Journal: Kunishima 2009 son and carrier mother M no Japan - >07y - - - macrothrombocytopenia, autosomal dominant, TUBB1-related incidentally found; diagnosed with immune thrombocytopenic purpura, peripheral blood smears showed prominent appearance of giant platelets; EM no other abnormalities; no leukocyte inclusion bodies, platelets aggregated normally with ADP, collagen and ristocetin; platelet size 5.2 um (mother 4.3, normal 2.9+/-0.6) TUBB1 TUBB1 3 2 Johan den Dunnen
00024933 - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - - - - macrothrombocytopenia, autosomal dominant, TUBB1-related - TUBB1 TUBB1 2 16 Johan den Dunnen
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