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.
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
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}.
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
Search interest in KRT6A
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 Germany.
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 Spain.
Pachyonychia congenita (sequence analysis of KRT6A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KRT6A gene.
More info about this panel Portugal.
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 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.
KRT6A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KRT6A gene.
More info about this panel United States.
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 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.
Pachyonychia congenita type 1 Panel
Spain.
By Bioarray
This panel specifically test the KRT6A gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MT-ND6 P3H2 NME8 STAC3 FLG CYP3A4 CFHR3