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GTR Home > Conditions/Phenotypes > Thrombocytopenia 3

Thrombocytopenia 3

Synonyms
THC3; THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 3

Summary

Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADAP, FYB, PRO0823, SLAP-130, SLAP130, THC3, FYB1
    Summary: FYN binding protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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