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GTR Home > Conditions/Phenotypes > Trichothiodystrophy 2, photosensitive

Trichothiodystrophy 2, photosensitive

Summary

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675. [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB, ERCC3
    Summary: ERCC excision repair 3, TFIIH core complex helicase subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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