KRT2 gene related symptoms and diseases

All the information presented here about the KRT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT2 gene

Symptoms // Phenotype % Cases
Edema Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases
Ichthyosis Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Abnormal blistering of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KRT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thin skin
  • Acantholysis
  • Not very common - Between 30% and 50% cases

  • Hyperhidrosis
  • Hyperkeratosis
  • Erythroderma
  • Lichenification
  • Congenital bullous ichthyosiform erythroderma
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Rare diseases associated to KRT2 gene

Here you will find a list of rare diseases related to the KRT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS


Alternate names

SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS Is also known as ichthyosis bullosa of siemens, sei

Description

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

Most common symptoms of SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


More info about SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

SOURCES: ORPHANET

EXFOLIATIVE ICHTHYOSIS


Alternate names

EXFOLIATIVE ICHTHYOSIS Is also known as ichthyosis, bullous type, ichthyosis exfoliativa, autosomal recessive exfoliative ichthyosis

Description

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

Most common symptoms of EXFOLIATIVE ICHTHYOSIS

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


More info about EXFOLIATIVE ICHTHYOSIS

SOURCES: OMIM ORPHANET MESH


Potential gene panels for KRT2 gene

KRT2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT2 gene.

More info about this panel

KRT2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT2 gene.

More info about this panel

Ichthyosis bullosa of Siemens (sequence analysis of KRT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT2 gene.

More info about this panel

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN

More info about this panel

Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRT2 gene.

More info about this panel

Ichthyosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis, bullous type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT2 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

Ichthyosis bullosa of Siemens: KRT2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KRT2 gene.

More info about this panel

ICHTHYOSIS (CONGENITAL) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ICHTHYOSIS (CONGENITAL) that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 CYP4F22 NIPAL4 ALOX12B KRT2

More info about this panel

KRT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT2 gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Ichthyosis bullosa of Siemens Panel

Spain.

By Bioarray

This panel specifically test the KRT2 gene.

More info about this panel

ICHTHYOSIS BULLOSA (SIEMENS DISEASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KRT2 gene.

More info about this panel

Ichthyosis Bullosa of Siemens , Sequencing KRT2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT2 gene.

More info about this panel

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel


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