Palmoplantar Keratoderma, Norrbotten Recessive Type; Ppknr

Description

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.

Clinical Features

Phenotypes and symptoms related to Palmoplantar Keratoderma, Norrbotten Recessive Type; Ppknr

  • Palmoplantar keratoderma
  • Diffuse palmoplantar keratoderma
  • Hyperkeratosis with erythema

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Palmoplantar Keratoderma, Norrbotten Recessive Type; Ppknr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLURP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SLURP1
Specificity
100 %
Genes
100 %
SLURP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLURP1
Specificity
100 %
Genes
100 %
Meleda disease (sequence analysis of SLURP1 gene).

By CGC Genetics in Portugal.

SLURP1
Specificity
100 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
100 %
Mal de Meleda.

By Centogene AG - the Rare Disease Company in Germany.

SLURP1
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
SLURP1.

By Division Human Genetics Medical University Innsbruck in Austria.

SLURP1
Specificity
100 %
Genes
100 %
Meleda disease: SLURP1 gen sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLURP1
Specificity
100 %
Genes
100 %
SLURP1.

By Fulgent Genetics Fulgent Genetics in United States.

SLURP1
Specificity
100 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Meleda disease.

By Bioarray in Spain.

SLURP1
Specificity
100 %
Genes
100 %
TRANSGREDIENS PALMOPLANTAR KERATODERMA OF SIEMENS (MELEDA DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

SLURP1
Specificity
100 %
Genes
100 %
Meleda Disease , Sequencing SLURP1 Gene.

By Reference Laboratory Genetics in Spain.

SLURP1
Specificity
100 %
Genes
100 %

Alternate names

Palmoplantar Keratoderma, Norrbotten Recessive Type; Ppknr Is also known as ;hereditary palmoplantar hyperkeratosis, gamborg-nielsen type; ppk, gamborg-nielsen type.


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