TTD7
MCID: TRC125
MIFTS: 9

Trichothiodystrophy 7, Nonphotosensitive (TTD7)

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy 7, Nonphotosensitive

MalaCards integrated aliases for Trichothiodystrophy 7, Nonphotosensitive:

Name: Trichothiodystrophy 7, Nonphotosensitive 57
Ttd7 57

Classifications:



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Summaries for Trichothiodystrophy 7, Nonphotosensitive

OMIM : 57 Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis (Theil et al., 2019). For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675. (618546)

MalaCards based summary : Trichothiodystrophy 7, Nonphotosensitive, is also known as ttd7. An important gene associated with Trichothiodystrophy 7, Nonphotosensitive is TARS1 (Threonyl-TRNA Synthetase 1).

Related Diseases for Trichothiodystrophy 7, Nonphotosensitive

Symptoms & Phenotypes for Trichothiodystrophy 7, Nonphotosensitive

Clinical features from OMIM:

618546

Drugs & Therapeutics for Trichothiodystrophy 7, Nonphotosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 7, Nonphotosensitive

Genetic Tests for Trichothiodystrophy 7, Nonphotosensitive

Anatomical Context for Trichothiodystrophy 7, Nonphotosensitive

Publications for Trichothiodystrophy 7, Nonphotosensitive

Articles related to Trichothiodystrophy 7, Nonphotosensitive:

# Title Authors PMID Year
1
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. 8
31374204 2019

Variations for Trichothiodystrophy 7, Nonphotosensitive

Expression for Trichothiodystrophy 7, Nonphotosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 7, Nonphotosensitive.

Pathways for Trichothiodystrophy 7, Nonphotosensitive

GO Terms for Trichothiodystrophy 7, Nonphotosensitive

Sources for Trichothiodystrophy 7, Nonphotosensitive

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62 PubMed
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69 SNOMED-CT via HPO
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