Peeling Skin Syndrome 4; Pss4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Peeling Skin Syndrome 4; Pss4

CSTA

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Peeling Skin Syndrome 4; Pss4

Edema
Hyperhidrosis
Hyperkeratosis
Erythema
Nail dystrophy
Pruritus
Ichthyosis
Palmoplantar keratoderma
Epidermal acanthosis
Palmoplantar hyperkeratosis

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Peeling Skin Syndrome 4; Pss4 Is also known as ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of siemens-like, arei.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Peeling Skin Syndrome 4; Pss4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CSTA. By Institute for Human Genetics University Clinic Freiburg (Germany). CSTA Specificity 100 % Genes 100 %
Epidermolysis bullosa Comprehensive panel. By Connective Tissue Gene Tests (United States). DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...) View the complete list with 3 more genes Panel complete gene list DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, SERPINB8, PKP1, PLEC Specificity 5 % Genes 100 %
Ichthyosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Epidermolysis bullosa NGS panel. By Connective Tissue Gene Tests (United States). DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...) View the complete list with 3 more genes Panel complete gene list DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, SERPINB8, PKP1, PLEC Specificity 5 % Genes 100 %
Ichthyosis NGS panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Epidermolysis bullosa Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...) View the complete list with 3 more genes Panel complete gene list DST, TGM5, FERMT1, CHST8, CDSN, COL17A1, COL7A1, CSTA, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, SERPINB8, PKP1, PLEC Specificity 5 % Genes 100 %
Ichthyosis Comprehensive panel. By Connective Tissue Gene Tests (United States). ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...) View the complete list with 7 more genes Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %
Peeling skin syndrome NGS panel. By Connective Tissue Gene Tests (United States). TGM5, CAST, CHST8, CDSN, CSTA, FLG2, SERPINB8 Specificity 15 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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