Trichothiodystrophy Syndromes
"Trichothiodystrophy Syndromes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D054463
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MeSH Number(s) |
C16.131.077.899 C16.131.831.874 C16.320.850.895 C17.800.804.874 C17.800.827.895
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Concept/Terms |
IBIDS Syndrome- IBIDS Syndrome
- IBIDS Syndromes
- Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
- Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
- Tay Syndrome
- Trichothiodystrophy with Congenital Ichtyosis
Photosensitive Trichothiodystrophy- Photosensitive Trichothiodystrophy
- Photosensitive Trichothiodystrophies
- Trichothiodystrophies, Photosensitive
- Trichothiodystrophy, Photosensitive
- PIBIDS Syndrome
- PIBIDS Syndromes
Amish Brittle Hair Brain Syndrome- Amish Brittle Hair Brain Syndrome
- Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
- Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome
- Amish Brittle Hair Syndrome
- Hair-Brain Syndrome
- Hair Brain Syndrome
- Hair-Brain Syndromes
- BIDS Syndrome
- BIDS Syndromes
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Below are MeSH descriptors whose meaning is more general than "Trichothiodystrophy Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Trichothiodystrophy Syndromes".
This graph shows the total number of publications written about "Trichothiodystrophy Syndromes" by people in this website by year, and whether "Trichothiodystrophy Syndromes" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2015 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Trichothiodystrophy Syndromes" by people in Profiles.
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Novel ERCC2 mutation in two siblings with trichothiodystrophy. Pediatr Dermatol. 2019 Sep; 36(5):668-671.
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Molecular regulation of UV-induced DNA repair. Photochem Photobiol. 2015 Mar-Apr; 91(2):254-64.