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GTR Home > Conditions/Phenotypes > Macrothrombocytopenia, isolated, 1, autosomal dominant

Macrothrombocytopenia, isolated, 1, autosomal dominant

Synonyms
Autosomal dominant macrothrombocytopenia TUBB1-related

Summary

Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding (Kunishima et al., 2009). Genetic Heterogeneity of Isolated Macrothrombocytopenia See also MACTHC2 (619840), caused by mutation in the TUBA8 gene (605742) on chromosome 22q11. [from OMIM]

Associated cytogenetic location

  • Location: 20q13.32

Clinical features

Imported from Human Phenotype Ontology (HPO)

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