Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Preferred term
Trichothiodystrophy Syndromes
Type
-
Topical Descriptor
Broader concept
Entry terms
- Trichothiodystrophies
- Trichothiodystrophy
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.
History note
- 2008
In other languages
-
Finnish
-
trikotiodystrofinen oireyhtymä
-
trikotiodystrofinen syndrooma
-
trikotiodystrofiset syndroomat
-
Swedish
-
BIDS-syndrom
-
Fotosensitiv trichotiodystrofi
-
PIBIDS-syndrom
-
Trichotiodystrofi med medfödd iktyos
-
Trichotiodystrofisyndrom
URI
http://www.yso.fi/onto/mesh/D054463
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