CSTA gene related symptoms and diseases
All the information presented here about the CSTA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CSTA 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 | Common - Between 50% and 80% cases |
Pruritus | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CSTA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Palmoplantar keratoderma
- Abnormal blistering of the skin
- Scaling skin
- Erythroderma
- Lichenification
- Congenital bullous ichthyosiform erythroderma
- Orthokeratosis
- Hyperhidrosis
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CSTA gene
Here you will find a list of rare diseases related to the CSTA. 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
ACRAL PEELING SKIN SYNDROME
Alternate names
ACRAL PEELING SKIN SYNDROME Is also known as localized pss, acral pss, localized deciduous skin, acral deciduous skin
Description
Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Most common symptoms of ACRAL PEELING SKIN SYNDROME
- Hyperkeratosis
- Erythema
- Scarring
- Papule
- Pruritus
More info about ACRAL PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 4; PSS4
Alternate names
PEELING SKIN SYNDROME 4; PSS4 Is also known as ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of siemens-like, arei
Most common symptoms of PEELING SKIN SYNDROME 4; PSS4
- Edema
- Hyperhidrosis
- Hyperkeratosis
- Erythema
- Nail dystrophy
More info about PEELING SKIN SYNDROME 4; PSS4
SOURCES: OMIM
Search interest in CSTA
Potential gene panels for CSTA gene
CSTA Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CSTA gene.
More info about this panelEpidermolysis bullosa Comprehensive panel Panel
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 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 panelEpidermolysis bullosa NGS panel Panel
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 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 panelEpidermolysis bullosa Deletion / Duplication panel Panel
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 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 panelPeeling skin syndrome NGS panel Panel
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 panelPeeling skin syndrome Comprehensive panel Panel
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 panelPeeling skin syndrome Deletion / Duplication panel Panel
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 panelPeeling skin syndrome type 4 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CSTA gene.
More info about this panelEpidermolysis bullosa panel Panel
By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5
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 panelCSTA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CSTA gene.
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