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Autosomal dominant macrothrombocytopenia

Disease definition

A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.

ORPHA:140957

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: D69.4
  • OMIM: 187800  613112  615193  619271  619840
  • UMLS: C4304021
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

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.

- Last update: May 2013

  A summary on this disease is available in Deutsch (2008) Français (2008) Italiano (2008) Português (2008) Español (2013) Nederlands (2013)

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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.