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.

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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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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


Potential gene panels for CSTA gene

CSTA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CSTA gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Peeling skin syndrome type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CSTA gene.

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

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 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

CSTA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CSTA gene.

More info about this panel


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