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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Trichothiodystrophy Syndromes
- Standard Disease Name
- trichothiodystrophy syndromes
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D054463
- OMIM ID
- No data
- UMLS ID
- C1955934
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NCI-GLOSS_1602D:A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.|NCI2016_02D:A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.|MSH2017_2016_08_12: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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Related Targets
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