DSG1

DSG1

desmoglein 1

HCNC Approved Symbol: DSG1 (HGNC:3048)
Genomic Coordinates: 18:31,318,160 - 31,359,246 (18q12.1)
Synonyms: CDHF4, DSG
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the DSG1 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

02
Patient count

Palmoplantar hyperkeratosis: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Palmoplantar keratoderma: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30