Trichothiodystrophy 3, Photosensitive; Ttd3

Description

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichothiodystrophy 3, Photosensitive; Ttd3

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture
  • Congenital cataract
  • Ichthyosis
  • Abnormality of skin pigmentation
  • Asthma
  • Cutaneous photosensitivity

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Trichothiodystrophy 3, Photosensitive; Ttd3 Is also known as ttda, trichothiodystrophy, complementation group a.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Trichothiodystrophy 3, Photosensitive; Ttd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GTF2H5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GTF2H5
Specificity
100 %
Genes
100 %
Trichothiodystrophy, complementation group A (sequence analysis of GTF2H5 gene).

By CGC Genetics (Portugal).

GTF2H5
Specificity
100 %
Genes
100 %
Trichothiodystrophy (NGS panel of 5 genes).

By CGC Genetics (Portugal).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3
Specificity
20 %
Genes
100 %
Trichothiodystrophy NGS panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Trichothiodystrophy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Trichothiodystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Trichothiodystrophy.

By Centogene AG - the Rare Disease Company (Germany).

GTF2H5
Specificity
100 %
Genes
100 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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