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DeCS
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Descriptor English:
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Trichothiodystrophy Syndromes
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Descriptor Spanish:
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Síndromes de Tricotiodistrofia
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Descriptor Portuguese:
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Síndromes de Tricotiodistrofia
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Tree Number:
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C16.131.077.899
C16.131.831.874
C16.320.850.895
C17.800.804.874
C17.800.827.895
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Definition English:
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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. |
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See Related English:
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Xeroderma Pigmentosum Group D Protein
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History Note English:
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2008
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Allowable Qualifiers English:
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Record Number:
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52625
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Unique Identifier:
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D054463
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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