Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4

Description

Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4

  • Pneumonia
  • Erythema
  • Epidermal acanthosis
  • Thickened skin
  • Palmoplantar hyperkeratosis
  • Scaling skin

Incidence and onset information

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.


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Erythrokeratodermia Variabilis Et Progressiva 4; Ekvp4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KDSR.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KDSR
Specificity
100 %
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
Specificity
4 %
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
Specificity
4 %
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
Specificity
4 %
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 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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