1. Mendelian
  2. Rare Diseases
  3. PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

Non-epidermolytic Palmoplantar Keratoderma

Table of contents:

Description

Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.

Genes related to Non-epidermolytic Palmoplantar Keratoderma

  • KRT1
  • AQP5

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Non-epidermolytic Palmoplantar Keratoderma

  • Hyperkeratosis
  • Erythema
  • Papule
  • Pruritus
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin
  • Skin ulcer
  • Scaling skin
  • Fragile skin
  • Plantar hyperkeratosis

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA have a estimated prevalence of 2.5 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Non-epidermolytic Palmoplantar Keratoderma Is also known as ppkne, nonepidermolytic palmoplantar keratoderma, autosomal dominant diffuse palmoplantar keratoderma, norrbotten type, neppk, diffuse palmoplantar keratoderma, bothnian type, keratoderma, nonepidermolytic palmoplantar, tylosis.

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.

Non-epidermolytic Palmoplantar Keratoderma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT1.

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

KRT1
Specificity
100 %
Genes
50 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
50 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
50 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
50 %
KRT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT1
Specificity
100 %
Genes
50 %
Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene).

By CGC Genetics (Portugal).

KRT1
Specificity
100 %
Genes
50 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
50 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9
Specificity
6 %
Genes
50 %

You can get up to 25 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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