EXPH5 gene related symptoms and diseases
All the information presented here about the EXPH5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EXPH5 gene
Symptoms // Phenotype | % Cases |
---|---|
Hyperkeratosis | Very Common - Between 80% and 100% cases |
Abnormality of the nervous system | Very Common - Between 80% and 100% cases |
Hypopigmentation of the skin | Very Common - Between 80% and 100% cases |
Abnormal bleeding | Very Common - Between 80% and 100% cases |
Epidermal acanthosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EXPH5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Atrophic scars
- Fragile skin
Rare diseases associated to EXPH5 gene
Here you will find a list of rare diseases related to the EXPH5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY
Alternate names
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY Is also known as ebs-ar exophilin 5
Description
Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.
Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY
- Hyperkeratosis
- Abnormality of the nervous system
- Hypopigmentation of the skin
- Abnormal bleeding
- Epidermal acanthosis
More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY
Search interest in EXPH5
Potential gene panels for EXPH5 gene
EBSeq Epidermolysis Bullosa Panel Panel
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 panelEXPH5 Gene Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EXPH5 gene.
More info about this panelEXPH5 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EXPH5 gene.
More info about this panelEB (Epidermolysis Bullosa) Deletion/Duplication panel Panel
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 panelEXPH5 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the EXPH5 gene.
More info about this panelEpidermolysis bullosa (NGS panel for 18 genes) Panel
By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1
More info about this panelEpidermolysis bullosa Comprehensive panel Panel
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 panelEpidermolysis bullosa NGS panel Panel
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 panelEpidermolysis bullosa Deletion / Duplication panel Panel
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 panelEpidermolysis bullosa panel Panel
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 panelGenetic Epidermolyses and blistering disorders Panel Panel
By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1
More info about this panelEXPH5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EXPH5 gene.
More info about this panelEpidermolysis Bullosa Panel Panel
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 panelEPIDERMOLISIS BULLOSA: NGS PANEL Panel
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 panelEpidermolysis Bullosa Simplex: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Epidermolysis Bullosa Simplex: gene sequencing panel that also includes the following genes: TGM5 EXPH5 KRT14 KRT5
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