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Browse result for Familial platelet disorder

※ introduction

    A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

Reference
DiseaseOntology: Familial platelet disorder



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00345Q01196861
RUNX1
Runt-related transcription factor 1
Homo sapiens