Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; Fneppk2

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 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; Fneppk2

TRPV3

View recommended genes panels

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 Panel complete gene list SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3, SLURP1, CLDN1, POMP, SUMF1, KRT6C, RHBDF2, GTF2H5, PNPLA1, ABHD5, LIPN, CERS3, CSTA, CTSC, AAGAB, CYP4F22, NIPAL4, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, ALDH3A2, ALMS1, GJB2, GJB4, GJB6, ALOX12B, AP1S1, JUP, AQP5, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LOR, ATP2A2, PHYH 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 Panel complete gene list WNT10A, SERPINB7, MBTPS2, TRPV3, SLURP1, KRT6C, CTSC, AAGAB, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, AQP5, KRT1, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT9, LOR, PKP1 Specificity 4 % Genes 100 %

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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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