TGM5 gene related symptoms and diseases

All the information presented here about the TGM5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TGM5 gene

Symptoms // Phenotype % Cases
Scaling skin Very Common - Between 80% and 100% cases
Scarring Very Common - Between 80% and 100% cases
Pruritus Very Common - Between 80% and 100% cases
Abnormal blistering of the skin Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TGM5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Rhinitis
  • Excessive wrinkling of palmar skin
  • Generalized ichthyosis
  • Orthokeratosis
  • Skin erosion
  • Allergy
  • Parakeratosis
  • Hyperkeratosis

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TGM5 gene

Here you will find a list of rare diseases related to the TGM5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACRAL PEELING SKIN SYNDROME

Alternate names

ACRAL PEELING SKIN SYNDROME Is also known as localized pss, acral pss, localized deciduous skin, acral deciduous skin

Description

Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.

Most common symptoms of ACRAL PEELING SKIN SYNDROME

  • Hyperkeratosis
  • Erythema
  • Scarring
  • Papule
  • Pruritus


More info about ACRAL PEELING SKIN SYNDROME

SOURCES: OMIM ORPHANET

PEELING SKIN SYNDROME 2; PSS2

Alternate names

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome, peeling skin syndrome, acral type, apss

Description

Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

Most common symptoms of PEELING SKIN SYNDROME 2; PSS2

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


More info about PEELING SKIN SYNDROME 2; PSS2

SOURCES: OMIM


Potential gene panels for TGM5 gene

EBSeq Epidermolysis Bullosa Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP

More info about this panel
United States.

TGM5 Gene Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the TGM5 gene.

More info about this panel
United States.

TGM5 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the TGM5 gene.

More info about this panel
United States.

EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EB (Epidermolysis Bullosa) Deletion/Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 DSP EXPH5

More info about this panel
United States.

TGM5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TGM5 gene.

More info about this panel
Germany.

Peeling skin syndrome 2 (sequence analysis of TGM5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TGM5 gene.

More info about this panel
Portugal.

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

More info about this panel
Portugal.

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

More info about this panel
Portugal.

Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4 JUP

More info about this panel
United States.

Peeling Skin Syndrome via TGM5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TGM5 gene.

More info about this panel
United States.

Epidermolysis bullosa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel
United States.

Ichthyosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel
United States.

Epidermolysis bullosa NGS panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel
United States.

Ichthyosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel
United States.

Epidermolysis bullosa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel
United States.

Ichthyosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel
United States.

Peeling skin syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Peeling skin syndrome NGS panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8

More info about this panel
United States.

Peeling skin syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Peeling skin syndrome Comprehensive panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8

More info about this panel
United States.

Peeling skin syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Peeling skin syndrome Deletion / Duplication panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8

More info about this panel
United States.

Peeling skin syndrome, acral type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TGM5 gene.

More info about this panel
Germany.

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

More info about this panel
Germany.

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
Germany.

TGM5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGM5 gene.

More info about this panel
United States.

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel
Finland.

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel
Spain.

Peeling Skin Syndrome Type 2 (Acral Type) , Sequencing TGM5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TGM5 gene.

More info about this panel
Spain.

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
Spain.

Epidermolysis Bullosa Simplex: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Epidermolysis Bullosa Simplex: gene sequencing panel that also includes the following genes: TGM5 EXPH5 KRT14 KRT5

More info about this panel
Canada.

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