macrothrombocytopenia, isolated, 1, autosomal dominant
Findings
No curated finding names macrothrombocytopenia, isolated, 1, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0800047), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MacrothrombocytopeniaHPOHP:0040185
- 2 of 2 reported patients
- Impaired platelet aggregationHPOHP:0003540
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBB1HGNC:16257
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: macrothrombocytopenia, isolated, 1, autosomal dominant
- Also called
- autosomal dominant macrothrombocytopenia caused by mutation in TUBB1MACTHC1TUBB1 autosomal dominant macrothrombocytopeniaTUBB1-related macrothrombocytopenia