Keratosis Palmoplantaris Striata Ii; Ppks2

Description

PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999).For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Keratosis Palmoplantaris Striata Ii; Ppks2

  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Scaling skin
  • Skin vesicle

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

Keratosis Palmoplantaris Striata Ii; Ppks2 Is also known as striate palmoplantar keratoderma ii, sppk2, keratoderma, palmoplantar, striate form ii, kpps2.

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.

Keratosis Palmoplantaris Striata Ii; Ppks2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Arrhythmogenic Right Ventricular Dysplasia 8 - DSP Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

DSP
Specificity
100 %
Genes
100 %
Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

DSP
Specificity
100 %
Genes
100 %
ARVC panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TMEM43, DSC2, DSG2, DSP, PKP2
Specificity
20 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %

You can get up to 184 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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