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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Trichothiodystrophy Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Trichothiodystrophy Syndromes
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Trichothiodystrophy Syndromes
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Trichothiodystrophy Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Trichothiodystrophy Syndromes

Preferred term

Trichothiodystrophy Syndromes  

Type

  • mesh:Descriptor

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.

Broader concept

Related concepts

Entry terms

  • Trichothiodystrophy

Allowable Qualifier(s)

In other languages

  • Trichothiodystrophies

    French

  • Syndrome Amish-cheveux épars
  • Syndrome BIDS
  • Trichothiodystrophie avec ichtyose congénitale
  • Trichothiodystrophie de type D
  • TTD (TrichoThioDystrophie)
  • TTD de type D

URI

http://data.loterre.fr/ark:/67375/JVR-K8SP2T03-F

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RDF/XML TURTLE JSON-LD Created 7/9/07, last modified 6/10/16