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GTR Home > Conditions/Phenotypes > Triokinase and FMN cyclase deficiency syndrome

Triokinase and FMN cyclase deficiency syndrome

Summary

Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020). [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: DAK, NET45, TKFCD, TKFC
    Summary: triokinase and FMN cyclase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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