KRT9 gene related symptoms and diseases

All the information presented here about the KRT9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT9 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Clubbing Very Common - Between 80% and 100% cases
Palmoplantar erythema Very Common - Between 80% and 100% cases
Nonepidermolytic palmoplantar keratoderma Very Common - Between 80% and 100% cases
Palmoplantar blistering Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KRT9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital bullous ichthyosiform erythroderma
  • Increased IgE level
  • Verrucae
  • Follicular hyperkeratosis
  • Ovarian neoplasm
  • Congenital ichthyosiform erythroderma
  • Erythroderma
  • Abnormality of the dentition

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KRT9 gene

Here you will find a list of rare diseases related to the KRT9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

Alternate names

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk, keratosis palmaris et plantaris familiaris, diffuse erythrodermic palmoplantar keratoderma, vÖrner type, epidermolytic palmoplantar keratoderma of voerner, keratosis of greither, ppke, epidermolytic palmoplantar keratoderma of vÖrner, diffuse erythrodermic

Description

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

Most common symptoms of EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

  • Neoplasm
  • Abnormality of the dentition
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


More info about EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET OMIM


Potential gene panels for KRT9 gene

KRT9 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT9 gene.

More info about this panel
Germany.

KRT9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT9 gene.

More info about this panel
Spain.

Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT9 gene.

More info about this panel
Portugal.

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN

More info about this panel
United States.

Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRT9 gene.

More info about this panel
United States.

Epidermolytic palmoplantar keratoderma Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT9 gene.

More info about this panel
Germany.

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel
Germany.

KRT9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT9 gene.

More info about this panel
United States.

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel
Finland.

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel
Finland.

Epidermolytic palmoplantar keratoderma Panel

Spain.

By Bioarray

This panel specifically test the KRT9 gene.

More info about this panel
Spain.

PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC Panel

Spain.

By Laboratorio de Genetica Clinica SL PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC that also includes the following genes: KRT1 KRT9

More info about this panel
Spain.

Epidermolytic Palmoplantar Keratoderma, Sequencing KRT9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT9 gene.

More info about this panel
Spain.

Epidermolytic Palmoplantar Keratoderma, Sequencing Exons (1,6) KRT9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT9 gene.

More info about this panel
Spain.

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel
Spain.

Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TRPV3 AQP5 KRT1 KRT10 KRT16 KRT9

More info about this panel
Spain.

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