GTF2H5 gene related symptoms and diseases

All the information presented here about the GTF2H5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GTF2H5 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Congenital nonbullous ichthyosiform erythroderma Common - Between 50% and 80% cases
Brittle hair Common - Between 50% and 80% cases
Cutaneous photosensitivity Common - Between 50% and 80% cases
Erythroderma Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GTF2H5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Asthma
  • Ichthyosis
  • Decreased fertility
  • Freckling
  • Telangiectasia
  • Flexion contracture
  • Cataract
  • Short stature

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GTF2H5 gene

Here you will find a list of rare diseases related to the GTF2H5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRICHOTHIODYSTROPHY


Description

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).


More info about TRICHOTHIODYSTROPHY

SOURCES: ORPHANET

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Alternate names

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, trichothiodystrophy, photosensitive, trichothiodystrophy with congenital ichthyosis, ichthyosis, congenital, with trichothiodystrophy, pibids syndrome, tay syndrome

Description

Trichothiodystrophy (TTD) 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. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

Most common symptoms of TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

SOURCES: ORPHANET OMIM

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3


Alternate names

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda, trichothiodystrophy, complementation group a

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}.

Most common symptoms of TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

SOURCES: OMIM


Potential gene panels for GTF2H5 gene

GTF2H5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GTF2H5 gene.

More info about this panel

Trichothiodystrophy, complementation group A (sequence analysis of GTF2H5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GTF2H5 gene.

More info about this panel

Trichothiodystrophy (NGS panel of 5 genes) Panel

Portugal.

By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel

Trichothiodystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Trichothiodystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Trichothiodystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Trichothiodystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GTF2H5 gene.

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Progeria syndromes Panel Panel

Germany.

By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

More info about this panel

Trichothiodystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3

More info about this panel

GTF2H5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GTF2H5 gene.

More info about this panel

TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) that also includes the following genes: GTF2H5 ERCC2 ERCC3

More info about this panel

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KRT10 DKC1 MT-TV LYZ

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more