Erythrokeratodermia Variabilis Et Progressiva 5; Ekvp5

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 Erythrokeratodermia Variabilis Et Progressiva 5; Ekvp5

KRT83

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Erythrokeratodermia Variabilis Et Progressiva 5; Ekvp5

Hyperkeratosis
Palmoplantar hyperkeratosis

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.

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.

Erythrokeratodermia Variabilis Et Progressiva 5; Ekvp5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT83. By Institute for Human Genetics University Clinic Freiburg (Germany). KRT83 Specificity 100 % Genes 100 %
Erythrokeratodermias and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % Genes 100 %
Erythrokeratodermias and related disorders NGS panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % Genes 100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). DSP, KDSR, GJA1, GJB4, KRT83, LOR Specificity 17 % Genes 100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel. By CeGaT GmbH (Germany). BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...) View the complete list with 35 more genes Panel complete gene list BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19, LIPH, NECTIN4, CYP26C1, TWIST2, ANTXR1, GTF2H5, DSG4, CTSC, OFD1, GRHL2, KRT74, EDAR, DLX3, WDR35, IFT43, DSP, EDA, FGF10, FGFR2, FGFR3, GJA1, GJB6, HOXC13, HR, KRT14, KRT81, KRT83, KRT85, KRT86, MSX1, NFKBIA, PIGL, PKP1, AXIN2, NECTIN1 Specificity 2 % Genes 100 %
KRT83. By Fulgent Genetics Fulgent Genetics (United States). KRT83 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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