Trichothiodystrophy Syndromes


Engelsk definition

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.

Svenska synonymer

BIDS-syndrom PIBIDS-syndrom Trichotiodystrofisyndrom Trichotiodystrofi med medfödd iktyos Fotosensitiv trichotiodystrofi

Engelska synonymer

Trichothiodystrophy Syndrome Trichothiodystrophy Trichothiodystrophies Trichothiodystrophy, Nonphotosensitive 1 Trichothiodystrophies, Nonphotosensitive 1 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 Trichothiodystrophies Trichothiodystrophies, Photosensitive Trichothiodystrophy, Photosensitive PIBIDS Syndrome PIBIDS Syndromes 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