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Disease Trichothiodystrophy Syndromes

Name Trichothiodystrophy Syndromes
Synonyms ABHS | Amish Brittle Hair Brain Syndrome | Amish Brittle Hair Syndrome | BIDS Syndrome | BIDS Syndromes | Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome | Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome | Hair Brain Syndrome | Hair-Brain Syndrome | Hair-Brain Syndromes | IBIDS Syndrome | IBIDS Syndromes | Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation | Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature | Photosensitive Trichothiodystrophies | Photosensitive Trichothiodystrophy | PIBIDS Syndrome | PIBIDS Syndromes | POLLITT SYNDROME | Tay Syndrome | Trichothiodystrophies | Trichothiodystrophies, Nonphotosensitive 1 | Trichothiodystrophies, Photosensitive | Trichothiodystrophy | TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE | TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME | Trichothiodystrophy, Nonphotosensitive 1 | Trichothiodystrophy, Photosensitive | Trichothiodystrophy Syndrome | Trichothiodystrophy with Congenital Ichtyosis | TTD4 | TTDN1
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Skin disease
MeSH® ID D054463
OMIM® ID 234050
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Trichothiodystrophy Syndromes Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Trichothiodystrophy Syndromes Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Trichothiodystrophy Syndromes Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Trichothiodystrophy Syndromes Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Trichothiodystrophy Syndromes Has associated chemicals Has associated genes

Top ↑ Descendants

Trichothiodystrophy Syndromes Has associated chemicals Has associated genes
  Ichthyosis, Congenital, with Trichothiodystrophy
  Sabinas brittle hair syndrome
  Trichorrhexis nodosa syndrome
  TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE Has associated chemicals Has associated genes
  TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE Has associated chemicals Has associated genes
  TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE Has associated chemicals Has associated genes
  TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE Has associated chemicals Has associated genes
  TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE Has associated chemicals Has associated genes
  Trichothiodystrophy with Sun Sensitivity