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macrothrombocytopenia, isolated, 1, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macrothrombocytopenia, isolated, 1, autosomal dominant

MONDO:0800047

Also known as:MACTHC1TUBB1 autosomal dominant macrothrombocytopeniaautosomal dominant macrothrombocytopenia caused by mutation in TUBB1

Overview

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.

GeneticsAutosomal dominant · TUBB1 (chr 20)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Macrothrombocytopenia. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Impaired platelet aggregation

Explore clinical features

Genetic Landscape

TUBB1 function has not been fully characterized.

Macrothrombocytopenia, isolated, 1, autosomal dominant is caused by mutations in the TUBB1 gene on chromosome 20.

Diagnosis

Genetic testing for TUBB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for macrothrombocytopenia, isolated, 1, autosomal dominant.

4 publications have been identified in PubMed for macrothrombocytopenia, isolated, 1, autosomal dominant. Research spans Review / Meta-Analysis (75%) and Epidemiology / Natural History (25%).

Recent Publications

Hua R (2026). [PMID: 41491418](https://pubmed.ncbi.nlm.nih.gov/41491418/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]
Gök V (2025). [PMID: 40488176](https://pubmed.ncbi.nlm.nih.gov/40488176/). *Res Pract Thromb Haemost*. [Review / Meta-Analysis]
Stoupa A (2025). [PMID: 40100854](https://pubmed.ncbi.nlm.nih.gov/40100854/). *Eur Thyroid J*. [Review / Meta-Analysis]
Safdari SM (2025). [PMID: 41316200](https://pubmed.ncbi.nlm.nih.gov/41316200/). *Thromb J*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613112

GARD

Genetic and Rare Diseases Info Center

GARD:18271

Questions for Your Care Team

→Should I pursue genetic testing for TUBB1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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macrothrombocytopenia, isolated, 1, autosomal dominant

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team