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Trichothiodystrophy Syndromes Summary

5 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a nucleotide excision repair defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2/XPD and ERCC3/XPB. Nonphotosensitive trichothiodystrophy is caused by mutation in the TTDN1 gene.

Also Known As: BIDS Syndrome; PIBIDS Syndrome; Photosensitive Trichothiodystrophy; Trichothiodystrophy, Nonphotosensitive 1; 1 Trichothiodystrophies, Nonphotosensitive Show All >>

Key Drugs and Agents for Trichothiodystrophy Syndromes

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. DNA (Deoxyribonucleic Acid) : 2 results : IBA
  2. Sulfur : 1 result : IBA
  3. RNA Polymerase II (RNA Polymerase B) : 1 result : IBA
  4. Catalase : 1 result : IBA

Diseases Related to Trichothiodystrophy Syndromes

  1. Nijmegen Breakage Syndrome
  2. Spinocerebellar Ataxias (Spinocerebellar Ataxia)
  3. Xeroderma Pigmentosum (Kaposi's Disease)
  4. Syndrome
  5. Skin Neoplasms (Skin Cancer)
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Key Therapies for Trichothiodystrophy Syndromes

Efficacy Chart >>

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