has material basis in germline mutation in TUBB1 autosomal dominant macrothrombocytopenia macrothrombocytopenia, isolated macrothrombocytopenia, isolated, 1, autosomal dominant https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/macrothrombocytopenia_isolated_1_autosomal_dominant MACTHC1 MESH:C567747 DOID:0090102 Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene, characterized by mild to moderate thrombocytopenia with large platelets and normal or near-normal bleeding symptoms. Structural studies in patient platelets show disorganized or reduced beta1-tubulin staining and abnormal marginal microtubule bands, impairing proplatelet formation and leading to fewer, larger circulating platelets. Functional platelet assays in affected individuals typically show qualitatively normal aggregation, with the clinical phenotype driven primarily by reduced platelet number rather than intrinsic platelet-function defects. TUBB1-related macrothrombocytopenia GARD:0018271 MONDO:0800047 autosomal dominant macrothrombocytopenia caused by mutation in TUBB1 OMIM:613112 MEDGEN:1811721 TUBB1 autosomal dominant macrothrombocytopenia UMLS:C5676892