Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal dominant macrothrombocytopenia.
2 publications have been identified in PubMed for autosomal dominant macrothrombocytopenia. Research spans Review / Meta-Analysis (100%).
Wu L (2025). [PMID: 41153762](https://pubmed.ncbi.nlm.nih.gov/41153762/). *Biomedicines*. [Review / Meta-Analysis]
Safdari SM (2025). [PMID: 41316200](https://pubmed.ncbi.nlm.nih.gov/41316200/). *Thromb J*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:04 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center