Xeroderma pigmentosum group E
Xeroderma pigmentosum group E
Definition
An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.
Also known as xeroderma pigmentosum group E, xeroderma pigmentosum group type E, xeroderma pigmentosum, complementation group type E, xeroderma pigmentosum, group E, DDB-negative subtype, XP-E, XP5, XPE — per MONDO
Also identified as
- DOID 0110846 per MONDO
- MESH C564732 per MONDO
- NCIT C114771 per MONDO
- OMIM 278740 per MONDO
- Orphanet 276261 per MONDO
- SCTID 56048001 per MONDO
- UMLS C1848411 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Integumental system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Skin of body | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |