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.
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).
Most common symptoms of ERYTHROKERATODERMIA VARIABILIS
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Cataract
More info about ERYTHROKERATODERMIA VARIABILIS
Search interest in GJB4
Potential gene panels for GJB4 gene
GJB4 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GJB4 gene.
More info about this panelConnexin Gene Testing Panel
By GeneDx
This panel specifically test the GJB4 gene.
More info about this panelErythrokeratodermia variabilis, Mendes da Costa type (sequence analysis of GJB4 gene) Panel
By CGC Genetics
This panel specifically test the GJB4 gene.
More info about this panelIchthyosis Deletion / Duplication panel Panel
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 panelIchthyosis NGS panel Panel
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 panelIchthyosis Comprehensive panel Panel
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 panelErythrokeratodermias and related disorders Comprehensive panel Panel
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 panelErythrokeratodermias and related disorders NGS panel Panel
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 panelErythrokeratodermias and related disorders Deletion / Duplication panel Panel
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 panelErythrokeratodermia variabilis et progressive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB4 gene.
More info about this panelErythrokeratodermia variabilis et progressiva Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GJB4 gene.
More info about this panelIchthyoses and related disorders of cornification Panel Panel
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 panelGJB4 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GJB4 gene.
More info about this panelGJB4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GJB4 gene.
More info about this panelIchthyosis Panel Panel
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 panelPalmoplantar Keratoderma Panel Panel
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 panelErythrokeratodermia variabilis with erythema gyratum repens Panel
By Bioarray
This panel specifically test the GJB4 gene.
More info about this panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
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 panelERYTHROKERATODERMIA VARIABILIS, MENDES DA COSTA TYPE Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJB4 gene.
More info about this panelErythrokeratodermia Variabilis (Type Mendes da Costa), Sequencing GJB4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GJB4 gene.
More info about this panelCongenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
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 panelErythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Panel
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
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