GJB4 gene related symptoms and diseases

All the information presented here about the GJB4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GJB4 gene

Symptoms // Phenotype % Cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Generalized hyperkeratosis Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GJB4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cutaneous photosensitivity
  • Hypertrichosis
  • Thickened skin
  • Abnormality of the hair
  • Abnormality of the nail
  • Generalized hirsutism
  • Palmoplantar hyperkeratosis
  • Diffuse palmoplantar hyperkeratosis

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GJB4 gene

Here you will find a list of rare diseases related to the GJB4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2


Description

Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by Richard et al., 2003). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) (van Steensel et al., 2009).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2

  • Hyperkeratosis
  • Erythema
  • Palmoplantar keratoderma
  • Generalized hyperkeratosis


More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2

SOURCES: OMIM

ERYTHROKERATODERMIA VARIABILIS


Alternate names

ERYTHROKERATODERMIA VARIABILIS Is also known as psek, erythrokeratodermia variabilis et progressiva, ekvp, ekv, erythrokeratodermia variabilis, mendes da costa type, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia, progressive symmetric, erythrokeratodermia variabilis with e

Description

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


More info about ERYTHROKERATODERMIA VARIABILIS

SOURCES: OMIM ORPHANET


Potential gene panels for GJB4 gene

GJB4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GJB4 gene.

More info about this panel

Connexin Gene Testing Panel

United States.

By GeneDx

This panel specifically test the GJB4 gene.

More info about this panel

Erythrokeratodermia variabilis, Mendes da Costa type (sequence analysis of GJB4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJB4 gene.

More info about this panel

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

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

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

Erythrokeratodermias and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Comprehensive panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders NGS panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Deletion / Duplication panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermia variabilis et progressive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GJB4 gene.

More info about this panel

Erythrokeratodermia variabilis et progressiva Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the GJB4 gene.

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

GJB4 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GJB4 gene.

More info about this panel

GJB4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GJB4 gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel

Erythrokeratodermia variabilis with erythema gyratum repens Panel

Spain.

By Bioarray

This panel specifically test the GJB4 gene.

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

ERYTHROKERATODERMIA VARIABILIS, MENDES DA COSTA TYPE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJB4 gene.

More info about this panel

Erythrokeratodermia Variabilis (Type Mendes da Costa), Sequencing GJB4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GJB4 gene.

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

Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Panel

Spain.

By Reference Laboratory Genetics Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes that also includes the following genes: GJA1 GJB4 LOR

More info about this panel


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