Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; Fneppk2

Clinical Features

Phenotypes and symptoms related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; Fneppk2

  • Hyperkeratosis
  • Palmoplantar keratoderma

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.

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; Fneppk2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRPV3.

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

TRPV3
Specificity
100 %
Genes
100 %
Olmsted syndrome (sequence analysis of TRPV3 gene).

By CGC Genetics (Portugal).

TRPV3
Specificity
100 %
Genes
100 %
Olmsted syndrome.

By Centogene AG - the Rare Disease Company (Germany).

TRPV3
Specificity
100 %
Genes
100 %
Olmsted syndrome.

By Centogene AG - the Rare Disease Company (Germany).

TRPV3
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH (Germany).

SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
TRPV3.

By Fulgent Genetics Fulgent Genetics (United States).

TRPV3
Specificity
100 %
Genes
100 %
Pachyonychia Congenita Panel.

By Blueprint Genetics (Finland).

TRPV3, KRT6C, AAGAB, KRT16, KRT17, KRT6A, KRT6B
Specificity
15 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics (Finland).

WNT10A, SERPINB7, MBTPS2, TRPV3, SLURP1, KRT6C, CTSC, AAGAB, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, AQP5, KRT1, KRT14, KRT16, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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