KRT6B gene related symptoms and diseases

All the information presented here about the KRT6B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT6B gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Abnormality of the nail Very Common - Between 80% and 100% cases
Abnormality of nail color Very Common - Between 80% and 100% cases
Skin plaque 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 KRT6B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thick nail
  • Oral leukoplakia
  • Hamartoma
  • Natal tooth
  • Anonychia
  • Laryngomalacia
  • Corneal dystrophy
  • Abnormality of the fingernails

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KRT6B gene

Here you will find a list of rare diseases related to the KRT6B. 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


Potential gene panels for KRT6B gene

KRT6B Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT6B gene.

More info about this panel

KRT6B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT6B gene.

More info about this panel

Pachyonychia congenita type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT6B 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

KRT6B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT6B 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 2 Panel

Spain.

By Bioarray

This panel specifically test the KRT6B 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 4 , Sequencing KRT6B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT6B 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


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