Progressive Symmetric Erythrokeratodermia

Clinical Features

Phenotypes and symptoms related to Progressive Symmetric Erythrokeratodermia

  • Erythema
  • Palmoplantar keratoderma
  • Skin plaque

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

Progressive Symmetric Erythrokeratodermia Is also known as darier-gottron disease, progressive symmetric erythrokeratodermia, gottron type, erythrokeratodermia progressiva symmetrica.

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.

Progressive Symmetric Erythrokeratodermia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KDSR.

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

KDSR
Specificity
100 %
Genes
34 %
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
8 %
Genes
67 %
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
8 %
Genes
67 %
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
8 %
Genes
67 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
50 %
Genes
100 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
50 %
Genes
100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
50 %
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
34 %

You can get up to 18 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUIR-TORRE SYNDROME; MRTES CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F BOUCHER-NEUHAUSER SYNDROME; BNHS CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN ATYPICAL JUVENILE PARKINSONISM ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED MONOSOMY 5P