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GTR Home > Conditions/Phenotypes > Trichothiodystrophy 7, nonphotosensitive

Trichothiodystrophy 7, nonphotosensitive

Summary

Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis (Theil et al., 2019). For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: TARS, TTD7, ThrRS, TARS1
    Summary: threonyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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