Orphanet: Autosomal dominant macrothrombocytopenia

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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: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: -
ICD-10: D69.4
OMIM: 187800 613112 615193
UMLS: -
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

Detailed information

Professionals

Clinical practice guidelines
Deutsch (2012)

Guidance for genetic testing
Français (2017, pdf)

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.

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