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
|
| MeSH Number(s) |
C16.131.077.899 C16.131.831.874 C16.320.850.895 C17.800.804.874 C17.800.827.895
|
| 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".
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