Palmoplantar Keratoderma, Nonepidermolytic, Focal 1; Fneppk1

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 1; Fneppk1

KRT16
KRT6C

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1; Fneppk1

Hyperkeratosis
Palmoplantar keratoderma
Oral leukoplakia

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

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1; Fneppk1 Is also known as focal nonepidermolytic palmoplantar keratoderma, ppkfne, keratoderma, focal nonepidermolytic palmoplantar.

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 1; Fneppk1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT16. By Institute for Human Genetics University Clinic Freiburg (Germany). KRT16 Specificity 100 % Genes 50 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT16 Specificity 100 % Genes 50 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT16 Specificity 100 % Genes 50 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT16 Specificity 100 % Genes 50 %
Palmoplantar keratoderma, nonepidermolytic, focal. By Centogene AG - the Rare Disease Company (Germany). KRT16 Specificity 100 % Genes 50 %
Pachyonychia congenita type 1. By Centogene AG - the Rare Disease Company (Germany). KRT16 Specificity 100 % Genes 50 %
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 4 % Genes 100 %
Single gene testing KRT16. By CeGaT GmbH (Germany). KRT16 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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