DSG1 Chromosome 18
Desmoglein 1
Upload your DNA to see your personal genotypes for variants in DSG1.
What This Gene Does
This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000134760
Associated Conditions (12)
Inborn genetic diseases
Palmoplantar keratoderma i
striate
focal
or diffuse
DSG1-related disorder
Hereditary palmoplantar keratoderma
Bicuspid aortic valve
Abnormality of the skin
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar hyperkeratosis
Epidermal disease
Key Variants
RS112716438
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144825489
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146862520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147377474
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200143796
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201665237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202198738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2071779127
Conflicting classifications of pathogenicity
Palmoplantar keratoderma i, striate, focal
Health Risk
RS376868157
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS556017565
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61730307
Conflicting classifications of pathogenicity
DSG1-related disorder, Inborn genetic diseases, DSG1-related disorder
Health Risk
RS946952164
Conflicting classifications of pathogenicity
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112716438 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144825489 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146862520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147377474 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200143796 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201665237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202198738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2071779127 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma i, striate, focal |
| RS376868157 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS556017565 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61730307 | Health Risk | Conflicting classifications of pathogenicity | DSG1-related disorder, Inborn genetic diseases, DSG1-related disorder |
| RS946952164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS989159105 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518788 | Health Risk | Likely pathogenic | Hereditary palmoplantar keratoderma, Bicuspid aortic valve, Hereditary palmoplantar keratoderma |
| RS1203908934 | Health Risk | Likely pathogenic | DSG1-related disorder, DSG1-related disorder |
| RS2144093610 | Health Risk | Likely pathogenic | Abnormality of the skin, Abnormality of the skin |
| RS2144107587 | Health Risk | Likely pathogenic | Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| RS2144110924 | Health Risk | Likely pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS2510846042 | Health Risk | Likely pathogenic | — |
| RS761241711 | Health Risk | Likely pathogenic | Hereditary palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Hereditary palmoplantar keratoderma |
| RS1268442199 | Health Risk | Pathogenic | — |
| RS1436840056 | Health Risk | Pathogenic | — |
| RS145081747 | Health Risk | Pathogenic | Severe dermatitis-multiple allergies-metabolic wasting syndrome, Palmoplantar keratoderma i, striate |
| RS1568039793 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS1598699465 | Health Risk | Pathogenic | — |
| RS2144077500 | Health Risk | Pathogenic | — |
| RS2144091452 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS2144098983 | Health Risk | Pathogenic | — |
| RS2510845796 | Health Risk | Pathogenic | — |
| RS2511042832 | Health Risk | Pathogenic | — |
| RS2511043841 | Health Risk | Pathogenic | — |
| RS2511043894 | Health Risk | Pathogenic | DSG1-related disorder, DSG1-related disorder |
| RS2511043976 | Health Risk | Pathogenic | — |
| RS2511045840 | Health Risk | Pathogenic | — |
| RS2511047532 | Health Risk | Pathogenic | — |
| RS397515639 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS397515640 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS397515641 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS398122400 | Health Risk | Pathogenic | Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| RS398122949 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS398122950 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS398122951 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS398122952 | Health Risk | Pathogenic | Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| RS568609861 | Health Risk | Pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS1182196436 | Health Risk | Pathogenic/Likely pathogenic | Palmoplantar keratoderma i, striate, focal |
| RS1463828394 | Health Risk | Pathogenic/Likely pathogenic | Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome |