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Autosomal dominant macrothrombocytopenia
Disease definition
A rare isolated constitutional thrombocytopenia characterized by abnormally 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.
A summary on this disease is available in Deutsch (2008) Français (2008) Italiano (2008) Português (2008) Español (2013) Nederlands (2013)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2012) - AWMF
- Français (2022) - PNDS
Genetic Testing
- Guidance for genetic testing
- Français (2017, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.