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.
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
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).
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
Search interest in CDSN
Potential gene panels for CDSN gene
EBSeq Epidermolysis Bullosa Panel Panel
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 panelCDSN Gene Sequencing Panel
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 panelCDSN Deletion/duplication analysis Panel
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 panelEB (Epidermolysis Bullosa) Deletion/Duplication panel Panel
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 panelCDSN Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CDSN gene.
More info about this panelGeneralized peeling skin syndrome type B (sequence analysis of CDSN gene) Panel
By CGC Genetics
This panel specifically test the CDSN gene.
More info about this panelHypotrichosis (NGS panel of 10 genes) Panel
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 panelHypotrichosis (NGS panel of 10 genes) Panel
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 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 panelHypotrichosis Comprehensive panel Panel
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 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 panelHypotrichosis NGS panel Panel
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 panelHypotrichosis Deletion / Duplication panel Panel
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 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 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDSN gene.
More info about this panelNonsyndromic hypotrichosis panel Panel
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 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 panelEctodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
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 panelqGenEx Craniofacial Anomalies Panel
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 panelPeeling skin syndrome : CDSN gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDSN gene.
More info about this panelCDSN Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDSN 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 panelEpidermolysis Bullosa Panel Panel
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 panelWoolly hair/Hypothricosis Simplex: NGS Panel Panel
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 panelPeeling Skin Syndrome Type 1 , Sequencing CDSN Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDSN gene.
More info about this panelHypotricosis , Panel Massive Sequencing (NGS) 8 Genes Panel
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
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