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Trichothiodystrophy Syndromes

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 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Also Known As:
Amish Brittle Hair Brain Syndrome; Amish Brittle Hair Syndrome; BIDS Syndrome; Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome; Hair-Brain Syndrome; IBIDS Syndrome; Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation; Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature; PIBIDS Syndrome; Photosensitive Trichothiodystrophy; Tay Syndrome; Trichothiodystrophy; Trichothiodystrophy with Congenital Ichtyosis; Trichothiodystrophy, Nonphotosensitive 1; Trichothiodystrophy, Photosensitive; BIDS Syndromes; Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome; Hair Brain Syndrome; Hair-Brain Syndromes; IBIDS Syndromes; PIBIDS Syndromes; Photosensitive Trichothiodystrophies; Trichothiodystrophies; Trichothiodystrophies, Nonphotosensitive 1; Trichothiodystrophies, Photosensitive; Trichothiodystrophy Syndrome
Networked: 141 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Intellectual Disability (Idiocy)
2. Dyslexia (Alexia)
3. Xeroderma Pigmentosum (Kaposi's Disease)
4. Cockayne Syndrome (Syndrome, Cockayne)
5. Neoplasms (Cancer)

Experts

1. Egly, Jean-Marc: 9 articles (01/2019 - 11/2002)
2. Tamura, Deborah: 8 articles (10/2021 - 10/2006)
3. Botta, Elena: 8 articles (01/2021 - 11/2002)
4. Khan, Sikandar G: 7 articles (10/2021 - 10/2008)
5. Compe, Emmanuel: 7 articles (01/2021 - 11/2007)
6. Kraemer, Kenneth H: 7 articles (01/2019 - 10/2006)
7. DiGiovanna, John J: 6 articles (10/2021 - 10/2006)
8. Lehmann, Alan R: 6 articles (10/2021 - 11/2002)
9. Hoeijmakers, Jan H J: 6 articles (01/2021 - 05/2002)
10. Nardo, Tiziana: 6 articles (01/2021 - 11/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trichothiodystrophy Syndromes:
1. Proteins (Proteins, Gene)FDA Link
2. Cystine (L-Cystine)IBA
3. Pyrimidine DimersIBA
4. A-Form DNA (A-DNA)IBA
5. Keratins (Keratin)IBA
6. Tyrosine (L-Tyrosine)FDA Link
7. SilverIBA
8. Nitric Oxide (Nitrogen Monoxide)FDA Link
9. SulfurIBA
10. Transcription Factor TFIIHIBA

Therapies and Procedures

1. Trabeculectomy (Trabeculoplasty)
2. Therapeutics
3. Lasers (Laser)
4. Anesthesia