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Autosomal dominant macrothrombocytopenia
Disease definition
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
ORPHA:140957
Classification level: DisorderSummary
Epidemiology
To date less than 10 cases are reported.
Clinical description
Autosomal dominant macrothrombocytopenia is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia.
Etiology
Transmission is autosomal dominant.
Detailed information
Professionals
- Clinical practice guidelines
- Deutsch (2012)
- Guidance for genetic testing
- Français (2017, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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