You are using an outdated browser. Please upgrade your browser to improve your experience.
peeling skin syndrome 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.
Uniprot Description A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:270300
UMLS:C3891449
UMLS:CN202306
MONDO:0024548
High level summary of knowledge for a disease, including descriptions and datasource references.