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.
Year introduced: 2008
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Subheadings:
Tree Number(s): C16.131.077.899, C16.131.831.874, C16.320.850.895, C17.800.804.874, C17.800.827.895
MeSH Unique ID: D054463
Entry Terms:
- Trichothiodystrophy Syndrome
- Trichothiodystrophy
- Trichothiodystrophies
- Photosensitive Trichothiodystrophy
- Photosensitive Trichothiodystrophies
- Trichothiodystrophies, Photosensitive
- PIBIDS Syndrome
- PIBIDS Syndromes
- Trichothiodystrophy, Photosensitive
- IBIDS Syndrome
- IBIDS Syndromes
- Tay Syndrome
- Trichothiodystrophy with Congenital Ichtyosis
- Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
- Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
- Amish Brittle Hair Brain Syndrome
- Hair-Brain Syndrome
- Hair Brain Syndrome
- Hair-Brain Syndromes
- BIDS Syndrome
- BIDS Syndromes
- Amish Brittle Hair Syndrome
- Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
- Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome
- Trichothiodystrophy, Nonphotosensitive 1
- Trichothiodystrophies, Nonphotosensitive 1
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