Palmoplantar Keratoderma, Nagashima Type

Table of contents:

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

Description

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).

Genes related to Palmoplantar Keratoderma, Nagashima Type

SERPINB7

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma, Nagashima Type

Flexion contracture
Hyperhidrosis
Hyperkeratosis
Erythema
Palmoplantar keratoderma
Epidermal acanthosis
Palmoplantar hyperkeratosis
Parakeratosis
Hypergranulosis
Orthokeratosis

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

Click here to know more about Mendelian.

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, Nagashima Type Is also known as ppk, nagashima type, palmoplantar hyperkeratosis, nagashima type.

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, Nagashima Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SERPINB7. By Institute for Human Genetics University Clinic Freiburg (Germany). SERPINB7 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 %
SERPINB7. By Fulgent Genetics Fulgent Genetics (United States). SERPINB7 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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