CDSN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CDSN gene

Symptoms // Phenotype % Cases
Alopecia Common - Between 50% and 80% cases
Brittle hair Uncommon - Between 30% and 50% cases
Angioedema Uncommon - Between 30% and 50% cases
Abnormality of hair texture Uncommon - Between 30% and 50% cases
Increased IgE level Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CDSN gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Concave nail
  • Hypergranulosis
  • Onycholysis
  • Dystrophic fingernails
  • Parakeratosis
  • Congenital ichthyosiform erythroderma
  • Erythroderma
  • Psoriasiform dermatitis

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDSN gene

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


HYPOTRICHOSIS SIMPLEX OF THE SCALP


Alternate names

HYPOTRICHOSIS SIMPLEX OF THE SCALP Is also known as hypotrichosis, spanish type, htss1, hypotrichosis simplex of the scalp 1, htss, hereditary hypotrichosis simplex of the scalp

Description

Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.

Most common symptoms of HYPOTRICHOSIS SIMPLEX OF THE SCALP

  • Alopecia
  • Hypotrichosis
  • Sparse scalp hair
  • Hypotrichosis of the scalp


More info about HYPOTRICHOSIS SIMPLEX OF THE SCALP

SOURCES: OMIM ORPHANET MESH

PEELING SKIN SYNDROME 1; PSS1


Alternate names

PEELING SKIN SYNDROME 1; PSS1 Is also known as pss, keratolysis exfoliativa congenita, deciduous skin, skin peeling, familial continuous generalized

Description

Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

Most common symptoms of PEELING SKIN SYNDROME 1; PSS1

  • Short stature
  • Edema
  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis


More info about PEELING SKIN SYNDROME 1; PSS1

SOURCES: OMIM

PEELING SKIN SYNDROME TYPE B


Alternate names

PEELING SKIN SYNDROME TYPE B Is also known as pss type b, generalized deciduous skin type b, inflammatory peeling skin syndrome, generalized peeling skin syndrome type b

Description

Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.


More info about PEELING SKIN SYNDROME TYPE B

SOURCES: ORPHANET


Potential gene panels for CDSN gene

EBSeq Epidermolysis Bullosa Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP

More info about this panel

CDSN Gene Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CDSN gene.

More info about this panel

CDSN Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CDSN gene.

More info about this panel

EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EB (Epidermolysis Bullosa) Deletion/Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 DSP EXPH5

More info about this panel

CDSN Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CDSN gene.

More info about this panel

Generalized peeling skin syndrome type B (sequence analysis of CDSN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDSN gene.

More info about this panel

Hypotrichosis (NGS panel of 10 genes) Panel

Portugal.

By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis (NGS panel of 10 genes) Panel

Portugal.

By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

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

Hypotrichosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis Comprehensive panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

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

Hypotrichosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis NGS panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

More info about this panel

Hypotrichosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hypotrichosis Deletion / Duplication panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

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 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CDSN gene.

More info about this panel

Nonsyndromic hypotrichosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Nonsyndromic hypotrichosis panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR

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

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Peeling skin syndrome : CDSN gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CDSN gene.

More info about this panel

CDSN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDSN 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

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

Woolly hair/Hypothricosis Simplex: NGS Panel Panel

Spain.

By Laboratorio de Genetica Clinica SL Woolly hair/Hypothricosis Simplex: NGS Panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 KRT25

More info about this panel

Peeling Skin Syndrome Type 1 , Sequencing CDSN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CDSN gene.

More info about this panel

Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Hypotricosis , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: RPL21 LPAR6 APCDD1 CDSN LIPH DSG4 KRT74 HR

More info about this panel


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