has material basis in germline mutation in ACTN1 inherited bleeding disorder, platelet-type platelet-type bleeding disorder 15 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/bleeding_disorder_platelet_type_15 GARD:0018272 OMIM:615193 MONDO:0014078 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene, characterized by mild thrombocytopenia, enlarged platelets, and platelet anisocytosis, with most individuals exhibiting no bleeding or only mild epistaxis. Human platelet studies show normal aggregation, clot retraction, and spreading, indicating that bleeding symptoms arise from reduced platelet mass rather than functional defects. Missense variants in ACTN1 disrupt actin-filament organization in megakaryocytes, producing fewer and larger proplatelet tips and resulting in macrothrombocytopenia. NANDO:2200665 platelet-type bleeding disorder 15 UMLS:C3554663 ACTN1 inherited bleeding disorder, platelet-type BDPLT15 ACTN1-related macrothrombocytopenia inherited bleeding disorder, platelet-type caused by mutation in ACTN1 MEDGEN:767577 DOID:0111053 autosomal dominant macrothrombocytopenia