DSG4 gene related symptoms and diseases
All the information presented here about the DSG4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DSG4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypotrichosis | Very Common - Between 80% and 100% cases |
| Sparse and thin eyebrow | Common - Between 50% and 80% cases |
| Follicular hyperkeratosis | Common - Between 50% and 80% cases |
| Sparse eyelashes | Common - Between 50% and 80% cases |
| Hyperhidrosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with DSG4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Alopecia
- Brittle hair
Not very common - Between 30% and 50% cases
- Hypotrichosis of the scalp
- Hyperkeratosis
- Erythema
- Papule
- Pruritus
- Sparse axillary hair
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DSG4 gene
Here you will find a list of rare diseases related to the DSG4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MONILETHRIX
Alternate names
MONILETHRIX Is also known as moniliform hair syndrome
Description
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Most common symptoms of MONILETHRIX
- Intellectual disability
- Cataract
- Cognitive impairment
- Abnormality of the dentition
- Hypotrichosis
More info about MONILETHRIX
SOURCES: ORPHANET
HYPOTRICHOSIS SIMPLEX
Alternate names
HYPOTRICHOSIS SIMPLEX Is also known as hhs, hereditary hypotrichosis simplex, hts, hypotrichosis simplex, generalized, hereditary
Description
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Most common symptoms of HYPOTRICHOSIS SIMPLEX
- Alopecia
- Hyperhidrosis
- Sparse hair
- Hypotrichosis
- Sparse and thin eyebrow
More info about HYPOTRICHOSIS SIMPLEX
HYPOTRICHOSIS 6; HYPT6
Alternate names
HYPOTRICHOSIS 6; HYPT6 Is also known as monilethrix-like hypotrichosis, lah, hypotrichosis, localized, autosomal recessive, hypotrichosis, localized, autosomal recessive 1, htl, lah1
Description
Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006).
Most common symptoms of HYPOTRICHOSIS 6; HYPT6
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
- Erythema
- Papule
More info about HYPOTRICHOSIS 6; HYPT6
Search interest in DSG4
Potential gene panels for DSG4 gene
DSG4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the DSG4 gene.
More info about this panel Germany.
Hypotrichosis simplex, type 6 (sequence analysis of DSG4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DSG4 gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
Hypotrichosis type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DSG4 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
DSG4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DSG4 gene.
More info about this panel United States.
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 Finland.
HYPOTRICHOSIS SIMPLEX Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOTRICHOSIS SIMPLEX that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 LIPH DSG4 KRT71 KRT74 KRT25
More info about this panel Spain.
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 Spain.
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 Spain.
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