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Trichothiodystrophy Syndromes MeSH Descriptor Data 2023


MeSH Heading
Trichothiodystrophy Syndromes
Tree Number(s)
C16.131.077.899
C16.131.831.874
C16.320.850.895
C17.800.804.874
C17.800.827.895
Unique ID
D054463
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054463
Scope Note
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.
Entry Term(s)
Amish Brittle Hair Brain Syndrome
Amish Brittle Hair Syndrome
BIDS Syndrome
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Hair-Brain Syndrome
IBIDS Syndrome
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
PIBIDS Syndrome
Photosensitive Trichothiodystrophy
Tay Syndrome
Trichothiodystrophy
Trichothiodystrophy with Congenital Ichtyosis
Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Photosensitive
Previous Indexing
Hair Diseases (1980-2007)
See Also
Xeroderma Pigmentosum Group D Protein
Public MeSH Note
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2016/06/10
Trichothiodystrophy Syndromes Preferred
Trichothiodystrophy, Nonphotosensitive 1 Narrower
IBIDS Syndrome Narrower
Photosensitive Trichothiodystrophy Narrower
Amish Brittle Hair Brain Syndrome Related
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