SERPINB8 gene related symptoms and diseases
All the information presented here about the SERPINB8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SERPINB8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hyperkeratosis | Very Common - Between 80% and 100% cases |
| Erythema | Very Common - Between 80% and 100% cases |
| Ichthyosis | Very Common - Between 80% and 100% cases |
| Edema | Uncommon - Between 30% and 50% cases |
| Hyperhidrosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SERPINB8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Palmoplantar keratoderma
- Abnormal blistering of the skin
- Thin skin
- Erythroderma
- Lichenification
- Acantholysis
- Congenital bullous ichthyosiform erythroderma
- Epidermal acanthosis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SERPINB8 gene
Here you will find a list of rare diseases related to the SERPINB8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
PEELING SKIN SYNDROME 5; PSS5
Description
Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).
Most common symptoms of PEELING SKIN SYNDROME 5; PSS5
- Hyperkeratosis
- Erythema
- Ichthyosis
- Epidermal acanthosis
- Scaling skin
More info about PEELING SKIN SYNDROME 5; PSS5
SOURCES: OMIM
Search interest in SERPINB8
Potential gene panels for SERPINB8 gene
SERPINB8 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SERPINB8 gene.
More info about this panel Germany.
Epidermolysis bullosa Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
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 United States.
Epidermolysis bullosa NGS panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
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 United States.
Epidermolysis bullosa Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
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 United States.
Peeling skin syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Peeling skin syndrome NGS panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8
More info about this panel United States.
Peeling skin syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Peeling skin syndrome Comprehensive panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8
More info about this panel United States.
Peeling skin syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Peeling skin syndrome Deletion / Duplication panel that also includes the following genes: TGM5 CAST CHST8 CDSN CSTA FLG2 SERPINB8
More info about this panel United States.
SERPINB8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SERPINB8 gene.
More info about this panel United States.
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