KRT6A gene related symptoms and diseases

All the information presented here about the KRT6A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT6A gene

Symptoms // Phenotype % Cases
Natal tooth Very Common - Between 80% and 100% cases
Oral leukoplakia Very Common - Between 80% and 100% cases
Thick nail Very Common - Between 80% and 100% cases
Corneal dystrophy Very Common - Between 80% and 100% cases
Epidermoid cyst Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KRT6A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Hamartoma
  • Palmoplantar keratoderma
  • Not very common - Between 30% and 50% cases

  • Abnormality of nail color
  • Skin plaque
  • Cataract

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to KRT6A gene

Here you will find a list of rare diseases related to the KRT6A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PACHYONYCHIA CONGENITA


Alternate names

PACHYONYCHIA CONGENITA Is also known as pc

Description

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

Most common symptoms of PACHYONYCHIA CONGENITA

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


More info about PACHYONYCHIA CONGENITA

SOURCES: ORPHANET OMIM

PACHYONYCHIA CONGENITA 3; PC3


Description

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}. Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.

Most common symptoms of PACHYONYCHIA CONGENITA 3; PC3

  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Epidermal acanthosis


More info about PACHYONYCHIA CONGENITA 3; PC3

SOURCES: OMIM


Potential gene panels for KRT6A gene

KRT6A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT6A gene.

More info about this panel

KRT6A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT6A gene.

More info about this panel

Pachyonychia congenita (sequence analysis of KRT6A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT6A gene.

More info about this panel

Pachyonychia congenita type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT6A 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

KRT6A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT6A 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 type 1 Panel

Spain.

By Bioarray

This panel specifically test the KRT6A gene.

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

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 Type 3, Sequencing KRT6A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT6A gene.

More info about this panel

Pachyonychia Congenita , Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes Panel

Spain.

By Reference Laboratory Genetics Pachyonychia Congenita , Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes that also includes the following genes: 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL25A1 MTHFR PIEZO1 AK1 COQ2 PIK3R5 PAX1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more