KRT6C gene related symptoms and diseases

All the information presented here about the KRT6C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT6C gene

Symptoms // Phenotype % Cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Oral leukoplakia Very Common - Between 80% and 100% cases
Pain Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KRT6C gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Epidermal acanthosis
  • Thickened skin
  • Skin vesicle
Mendelian

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Rare diseases associated to KRT6C gene

Here you will find a list of rare diseases related to the KRT6C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1


Alternate names

PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1 Is also known as focal nonepidermolytic palmoplantar keratoderma, ppkfne, keratoderma, focal nonepidermolytic palmoplantar

Most common symptoms of PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1

  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Oral leukoplakia


More info about PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1

SOURCES: OMIM

AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING


Description

A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.

Most common symptoms of AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING

  • Pain
  • Hyperhidrosis
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Epidermal acanthosis


More info about AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING

SOURCES: ORPHANET OMIM


Potential gene panels for KRT6C gene

KRT6C Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT6C gene.

More info about this panel

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

Single gene testing KRT6C Panel

Germany.

By CeGaT GmbH

This panel specifically test the KRT6C gene.

More info about this panel

KRT6C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT6C gene.

More info about this panel

Pachyonychia Congenita Panel Panel

Finland.

By Blueprint Genetics Pachyonychia Congenita Panel that also includes the following genes: TRPV3 KRT6C AAGAB KRT16 KRT17 KRT6A KRT6B

More info about this panel

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

PACHYONYCHIA CONGENITA Panel

Spain.

By Laboratorio de Genetica Clinica SL PACHYONYCHIA CONGENITA that also includes the following genes: KRT6C KRT16 KRT17 KRT6A KRT6B

More info about this panel

PALMOPLANTAR KERATODERMA, NON-EPIDERMOLYTIC Panel

Spain.

By Laboratorio de Genetica Clinica SL PALMOPLANTAR KERATODERMA, NON-EPIDERMOLYTIC that also includes the following genes: KRT6C KRT16

More info about this panel

PACHYONYCHIA CONGENITA SANGER PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PACHYONYCHIA CONGENITA SANGER PANEL that also includes the following genes: KRT6C KRT16 KRT17 KRT6A KRT6B

More info about this panel

Pachyonychia Congenita: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pachyonychia Congenita: gene sequencing panel that also includes the following genes: KRT6C KRT16 KRT17 KRT6A KRT6B

More info about this panel


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