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GTR Home > Conditions/Phenotypes > Thrombocytopenia 6

Thrombocytopenia 6

Synonyms
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASV, SRC1, THC6, c-SRC, p60-Src, SRC
    Summary: SRC proto-oncogene, non-receptor tyrosine kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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