Trichothiodystrophy nonphotosensitive

Common Name(s)

Trichothiodystrophy nonphotosensitive, Trichothiodystrophy, nonphotosensitive 1

Trichothiodystrophy (TTD) is the term that {12:Price et al. (1980)} assigned to conditions of brittle hair with markedly reduced sulfur content. TTD can be associated with a spectrum of symptoms involving organs of ectodermal and neuroectodermal origin, including nail dystrophy, mental and growth retardation, ichthyosis, decreased fertility, and cutaneous photosensitivity, but not cancer ({3:Bergmann and Egly, 2001}). Approximately half of patients with TTD display photosensitivity (see TTDP, {601675}); these cases are associated with defects in nucleotide excision repair. Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. Trichorrhexis nodosa also occurs in Netherton syndrome ({256500}), argininosuccinic aciduria ({207900}), and Menkes disease ({309400}),
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trichothiodystrophy nonphotosensitive" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Trichothiodystrophy nonphotosensitive" returned 1 free, full-text research articles on human participants. First 3 results:

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
 

Author(s): Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R MacDonald, Erik G Puffenberger, Angela M Christiano, Amalia Martinez-Mir, Julio C Salas-Alanis, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G J Jaspers, Jacques S Beckmann, Charles E Jackson, Stephen W Scherer

Journal: Am. J. Hum. Genet.. 2005 Mar;76(3):510-6.

 

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated "TTDN1" (TTD nonphotosensitive ...

Last Updated: 8 Feb 2005

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Symptoms, Diagnosis, and Treatment

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