autosomal dominant macrothrombocytopenia TUBB1-related
MeSH: C567747ORPHA: 140957
Overview
thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant macrothrombocytopenia TUBB1-related, sourced from HPO and Orphanet clinical annotations.
ThrombocytopeniaIncreased mean platelet volumeMacrothrombocytopeniaPlatelet anisocytosisEpistaxisBruising susceptibilityProlonged bleeding after surgeryProlonged bleeding after dental extractionMetrorrhagia
Classification & Codes
MeSH Code
C567747Orphanet Code
ORPHA:140957autosomal dominant macrothrombocytopenia TUBB1-related
| MeSH | C567747 |
| Orphanet | ORPHA:140957 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO