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.
Below are the most recent publications written about "Trichothiodystrophy Syndromes" by people in Profiles.
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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis. Am J Med Genet A. 2022 12; 188(12):3448-3462.
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Trichothiodystrophy hair shafts display distinct ultrastructural features. Exp Dermatol. 2022 08; 31(8):1270-1275.
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520.
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Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging. Cell. 2017 03 23; 169(1):132-147.e16.
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Ocular manifestations of genetic skin disorders. Clin Dermatol. 2016 Mar-Apr; 34(2):242-75.
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Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr. 2014 Oct; 59(4):458-64.
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Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008 Oct; 29(10):1194-208.
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XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. Cell. 2008 May 30; 133(5):789-800.
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Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci. 2007 Nov; 10(11):1414-22.