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.

Genes related to Ectodermal Dysplasia/skin Fragility Syndrome

PKP1

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia/skin Fragility Syndrome

Failure to thrive
Nevus
Pain
Immunodeficiency
Alopecia
Erythema
Hyperkeratosis
Hyperhidrosis
Pruritus
Dry skin

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

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Ectodermal Dysplasia/skin Fragility Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1 , (...) View the complete list with 2 more genes Panel GTR000514634 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN Specificity 5 % Genes 100 %
PKP1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PKP1 Specificity 100 % Genes 100 %
PKP1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PKP1 Specificity 100 % Genes 100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, TGM5, ITGA3, PKP1, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN Specificity 5 % Genes 100 %
PKP1. By Institute for Human Genetics University Clinic Freiburg in Germany. PKP1 Specificity 100 % Genes 100 %
Epidermolysis bullosa simplex due to plakophilin deficiency (sequence analysis of PKP1 gene). By CGC Genetics in Portugal. PKP1 Specificity 100 % Genes 100 %
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, PKP1, KRT14, ITGB4, ITGA6, FERMT1, DST, COL17A1, COL7A1 Specificity 7 % Genes 100 %
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PKP1 Specificity 100 % Genes 100 %
Epidermolysis bullosa Comprehensive panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559083 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 5 % Genes 100 %
Epidermolysis bullosa NGS panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559122 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 5 % Genes 100 %
Epidermolysis bullosa Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559162 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 5 % Genes 100 %
Ectodermal dysplasia / Skin fragility syndrome. By GeneTech ATS GeneTech Private Limited in India. PKP1 Specificity 100 % Genes 100 %
Epidermolysis bullosa panel. By Centogene AG - the Rare Disease Company in Germany. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1 , (...) View the complete list with 2 more genes Panel GTR000552613 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1, CSTA, MMP1 Specificity 5 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH in Germany. BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...) View the complete list with 35 more genes Panel GTR000522393 complete gene list BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2, NFKBIA, PKP1, KRT14, CDSN, EDA, UBR1, PIGL, KRT86, KRT81, KRT83, MPLKIP, EDAR, GTF2H5, ST14, WNT10A, DSG4, EDARADD, TRPS1, ANTXR1, HR, TWIST2, DLX3, LPAR6, KRT74, MSX1, KCTD1, HOXC13, KRT85, SNRPE, APCDD1, LIPH, BANF1, NECTIN1, NECTIN4, CYP26C1 Specificity 2 % Genes 100 %
Genetic Epidermolyses and blistering disorders Panel. By CeGaT GmbH in Germany. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 6 % Genes 100 %
PKP1. By Fulgent Genetics Fulgent Genetics in United States. PKP1 Specificity 100 % Genes 100 %
Epidermolysis Bullosa Panel. By Blueprint Genetics in Finland. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...) View the complete list with 4 more genes Panel GTR000552663 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1, KRT1, DSG1, DSG4, ATP2C1 Specificity 5 % Genes 100 %
Palmoplantar Keratoderma Panel. By Blueprint Genetics in Finland. DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...) View the complete list with 5 more genes Panel GTR000561524 complete gene list DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17, GJB4, AQP5, KRT6B, WNT10A, SERPINB7 Specificity 4 % Genes 100 %
EPIDERMOLISIS BULLOSA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 5 % Genes 100 %

Alternate names

Ectodermal Dysplasia/skin Fragility Syndrome Is also known as mcgrath syndrome;ectodermal dysplasia-skin fragility syndrome; mcgrath syndrome.

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