PKP1 gene related symptoms and diseases
All the information presented here about the PKP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PKP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Skin ulcer | Very Common - Between 80% and 100% cases |
| Woolly hair | Very Common - Between 80% and 100% cases |
| Abnormal eyebrow morphology | Very Common - Between 80% and 100% cases |
| Absent eyelashes | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PKP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Blepharitis
- Fragile skin
- Skin vesicle
- Epiphora
- Scaling skin
- Palmoplantar hyperkeratosis
- Abnormality of the nail
- Chronic diarrhea
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PKP1 gene
Here you will find a list of rare diseases related to the PKP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY
Alternate names
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome, ectodermal dysplasia-skin fragility syndrome
Description
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.
Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY
- Failure to thrive
- Immunodeficiency
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY
Search interest in PKP1
Potential gene panels for PKP1 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.
PKP1 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 PKP1 gene.
More info about this panel United States.
PKP1 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 PKP1 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.
PKP1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PKP1 gene.
More info about this panel Germany.
Epidermolysis bullosa simplex due to plakophilin deficiency (sequence analysis of PKP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PKP1 gene.
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.
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PKP1 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.
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.
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.
Ectodermal dysplasia / Skin fragility syndrome Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the PKP1 gene.
More info about this panel India.
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.
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 Germany.
Genetic Epidermolyses and blistering disorders Panel Panel
Germany.
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 panel Germany.
PKP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PKP1 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.
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 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.
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