Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1

Table of contents:

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

Description

Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris StriataType II PPKS (PPKS2 ) is caused by mutation in the DSP gene (OMIM ) on chromosome 6.Type III PPKS (PPKS3 ) is caused by mutation in the keratin-1 gene (KRT1 ) on chromosome 12q.For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.

Genes related to Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1

DSG1

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Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1

Neoplasm
Cardiomyopathy
Hyperhidrosis
Hyperkeratosis
Nail dystrophy
Palmoplantar keratoderma
Epidermal acanthosis
Woolly hair
Onycholysis
Hypergranulosis

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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 I, Striate, Focal, Or Diffuse; Ppks1 Is also known as kpps1, keratoderma, palmoplantar, striate form i, sppk1, striate palmoplantar keratoderma i, keratosis palmoplantaris striata i.

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 I, Striate, Focal, Or Diffuse; Ppks1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSG1. By Institute for Human Genetics University Clinic Freiburg (Germany). DSG1 Specificity 100 % Genes 100 %
DSG1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). DSG1 Specificity 100 % Genes 100 %
Epidermolysis bullosa panel. By Centogene AG - the Rare Disease Company (Germany). DST, TGM5, FERMT1, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1 , (...) View the complete list with 2 more genes Panel complete gene list DST, TGM5, FERMT1, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC Specificity 5 % 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 %
Platelets, Coagulation disorders Panel. By CeGaT GmbH (Germany). VHL, VWF, ADAMTS13, TET2, DSG1, ENTPD1, ETV6, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, PDGFRB Specificity 6 % Genes 100 %
DSG1. By Fulgent Genetics Fulgent Genetics (United States). DSG1 Specificity 100 % Genes 100 %
Epidermolysis Bullosa Panel. By Blueprint Genetics (Finland). DST, TGM5, ATP2C1, FERMT1, CDSN, GRIP1, DSG4, COL17A1, COL7A1, DSG1, DSG2, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT14, KRT5, LAMA3 , (...) View the complete list with 4 more genes Panel complete gene list DST, TGM5, ATP2C1, FERMT1, CDSN, GRIP1, DSG4, COL17A1, COL7A1, DSG1, DSG2, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC Specificity 5 % 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 MESH Rare Disease Search Engine

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