Trichothiodystrophy 4, Nonphotosensitive; Ttd4

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 (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichothiodystrophy 4, Nonphotosensitive; Ttd4

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Cognitive impairment

And another 29 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Trichothiodystrophy 4, Nonphotosensitive; Ttd4 Is also known as trichothiodystrophy-neurocutaneous syndrome, pollitt syndrome, abhs, trichothiodystrophy, nonphotosensitive 1, bids syndrome, ttdn1, amish brittle hair brain syndrome, hair-brain syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Trichothiodystrophy 4, Nonphotosensitive; Ttd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MPLKIP.

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

MPLKIP
Specificity
100 %
Genes
100 %
Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene).

By CGC Genetics (Portugal).

MPLKIP
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, nonphotosensitive type 1.

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

MPLKIP
Specificity
100 %
Genes
100 %

We have 10 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more