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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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). 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

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 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). 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. Genetic Heterogeneity of Pachyonychia CongenitaSee pachyonychia congenita-2 (PC2 ), caused by mutation in the KRT17 gene (OMIM ) on chromosome 17; PC3 (OMIM ), caused by mutation in the KRT6A gene (OMIM ) on chromosome 2; and PC4 (OMIM ), caused by mutation or in the KRT6B gene (OMIM ) on chromosome 12.See {260130} for a possible autosomal recessive form of pachyonychia congenita.

Most common symptoms of PACHYONYCHIA CONGENITA 1; PC1

  • Intellectual disability
  • Respiratory distress
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


More info about PACHYONYCHIA CONGENITA 1; PC1

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


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

SOURCES: OMIM

ISOLATED FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA



More info about ISOLATED FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET


Potential gene panels for KRT16 gene

KRT16 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT16 gene.

More info about this panel

KRT16. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT16 gene.

More info about this panel

KRT16. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT16 gene.

More info about this panel

KRT16. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT16 gene.

More info about this panel

Palmoplantar keratoderma, nonepidermolytic, focal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT16 gene.

More info about this panel

Pachyonychia congenita type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT16 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 KRT16 Panel

Germany.

By CeGaT GmbH

This panel specifically test the KRT16 gene.

More info about this panel

KRT16 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT16 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

Epidermolytic palmoplantar keratoderma Panel

Spain.

By Bioarray

This panel specifically test the KRT16 gene.

More info about this panel

Pachyonychia congenita type 1 Panel

Spain.

By Bioarray

This panel specifically test the KRT16 gene.

More info about this panel

Thost-Unna palmoplantar keratoderma Panel

Spain.

By Bioarray

This panel specifically test the KRT16 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

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 Type 1, Sequencing KRT16 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT16 gene.

More info about this panel

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

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 SLC9A3 PICK1 OPA3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more