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
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
Search interest in KRT2
Potential gene panels for KRT2 gene
KRT2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KRT2 gene.
More info about this panelKRT2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KRT2 gene.
More info about this panelIchthyosis bullosa of Siemens (sequence analysis of KRT2 gene) Panel
By CGC Genetics
This panel specifically test the KRT2 gene.
More info about this panelCongenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel
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 panelIchthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KRT2 gene.
More info about this panelIchthyosis Deletion / Duplication panel Panel
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 panelIchthyosis NGS panel Panel
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 panelIchthyosis Comprehensive panel Panel
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 panelIchthyosis, bullous type Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KRT2 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 panelIchthyosis bullosa of Siemens: KRT2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KRT2 gene.
More info about this panelICHTHYOSIS (CONGENITAL) Panel
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 panelKRT2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KRT2 gene.
More info about this panelIchthyosis Panel Panel
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 panelIchthyosis bullosa of Siemens Panel
By Bioarray
This panel specifically test the KRT2 gene.
More info about this panelICHTHYOSIS BULLOSA (SIEMENS DISEASE) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the KRT2 gene.
More info about this panelIchthyosis Bullosa of Siemens , Sequencing KRT2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the KRT2 gene.
More info about this panelCongenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
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
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