KRT16 gene related symptoms and diseases
All the information presented here about the KRT16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KRT16 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hyperkeratosis | Common - Between 50% and 80% cases |
| Hyperhidrosis | Common - Between 50% and 80% cases |
| Palmoplantar keratoderma | Common - Between 50% and 80% cases |
| Oral leukoplakia | Common - Between 50% and 80% cases |
| Alopecia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KRT16 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Epidermoid cyst
- Abnormality of the dentition
- Corneal dystrophy
- Natal tooth
- Hamartoma
- Follicular hyperkeratosis
- Nail dystrophy
- Thick nail
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KRT16 gene
Here you will find a list of rare diseases related to the KRT16. 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).
Most common symptoms of EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
- Neoplasm
- Abnormality of the dentition
- Clinodactyly
- Hyperhidrosis
- Hyperkeratosis
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
PACHYONYCHIA CONGENITA 1; PC1
Alternate names
PACHYONYCHIA CONGENITA 1; PC1 Is also known as jadassohn-lewandowsky syndrome, formerly, pachyonychia congenita, jadassohn-lewandowsky type, formerly
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).
Most common symptoms of PACHYONYCHIA CONGENITA 1; PC1
- Intellectual disability
- Respiratory distress
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
SOURCES: OMIM
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
SOURCES: OMIM
ISOLATED FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
Search interest in KRT16
Potential gene panels for KRT16 gene
KRT16 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KRT16 gene.
More info about this panelKRT16. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KRT16 gene.
More info about this panelKRT16. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KRT16 gene.
More info about this panelKRT16. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KRT16 gene.
More info about this panelPalmoplantar keratoderma, nonepidermolytic, focal Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KRT16 gene.
More info about this panelPachyonychia congenita type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KRT16 gene.
More info about this panelIchthyoses and related disorders of cornification Panel Panel
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 panelSingle gene testing KRT16 Panel
By CeGaT GmbH
This panel specifically test the KRT16 gene.
More info about this panelKRT16 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KRT16 gene.
More info about this panelPachyonychia Congenita Panel Panel
By Blueprint Genetics Pachyonychia Congenita Panel that also includes the following genes: TRPV3 KRT6C AAGAB KRT16 KRT17 KRT6A KRT6B
More info about this panelPalmoplantar Keratoderma Panel Panel
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 panelEpidermolytic palmoplantar keratoderma Panel
By Bioarray
This panel specifically test the KRT16 gene.
More info about this panelPachyonychia congenita type 1 Panel
By Bioarray
This panel specifically test the KRT16 gene.
More info about this panelThost-Unna palmoplantar keratoderma Panel
By Bioarray
This panel specifically test the KRT16 gene.
More info about this panelPACHYONYCHIA CONGENITA Panel
By Laboratorio de Genetica Clinica SL PACHYONYCHIA CONGENITA that also includes the following genes: KRT6C KRT16 KRT17 KRT6A KRT6B
More info about this panelPALMOPLANTAR KERATODERMA, NON-EPIDERMOLYTIC Panel
By Laboratorio de Genetica Clinica SL PALMOPLANTAR KERATODERMA, NON-EPIDERMOLYTIC that also includes the following genes: KRT6C KRT16
More info about this panelPACHYONYCHIA CONGENITA SANGER PANEL Panel
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 panelPachyonychia Congenita Type 1, Sequencing KRT16 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the KRT16 gene.
More info about this panelPalmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
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 panelPachyonychia Congenita , Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes Panel
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 panelPachyonychia Congenita: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pachyonychia Congenita: gene sequencing panel that also includes the following genes: KRT6C KRT16 KRT17 KRT6A KRT6B
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