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GTR Home > Conditions/Phenotypes > Thrombocytopenia 13, syndromic

Thrombocytopenia 13, syndromic

Synonyms
THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 13

Summary

Syndromic thrombocytopenia-13 (THC13) is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects. Some patients have infection-induced leukopenia or anemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development (Seo et al., 2019; Febres-Aldana et al., 2020; Marin-Quilez et al., 2023). For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SDR1E1, THC13, GALE
    Summary: UDP-galactose-4-epimerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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