Palmoplantar Keratoderma, Bothnian Type; Ppkb

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (OMIM ).For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).

Genes related to Palmoplantar Keratoderma, Bothnian Type; Ppkb

AQP5

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Clinical Features

Phenotypes and symptoms related to Palmoplantar Keratoderma, Bothnian Type; Ppkb

Hyperkeratosis
Erythema
Pruritus
Palmoplantar keratoderma
Diffuse 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, Bothnian Type; Ppkb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AQP5. By Institute for Human Genetics University Clinic Freiburg (Germany). AQP5 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 %
AQP5. By Fulgent Genetics Fulgent Genetics (United States). AQP5 Specificity 100 % 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 %
Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics (Spain). TRPV3, AQP5, KRT1, KRT10, KRT16, KRT9 Specificity 17 % Genes 100 %

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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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