Bleeding Disorder, Platelet-Type, 19 (BDPLT19)

Alias:

Platelet-Type Bleeding Disorder 19

Bdplt19

Severe Autosomal Recessive Macrothrombocytopenia

Bleeding Disorder, Platelet Type 19

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bleeding Disorder, Platelet-Type, 19, also known as platelet-type bleeding disorder 19, is related to myofibrillar myopathy. An important gene associated with Bleeding Disorder, Platelet-Type, 19 is PRKACG (Protein Kinase CAMP-Activated Catalytic Subunit Gamma), and among its related pathways/superpathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and MAPK signaling pathway. Related phenotypes are thrombocytopenia and epistaxis

Related ID：

MALACARDS：BLD127

OMIM：616176

MESH：D001791