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Xeroderma pigmentosum group E
rareAn 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.
- Identifiers
- MONDO:0010213 OMIM:278740Orphanet:276261
- Causal genes
- DDB2
- Part of
- Xeroderma pigmentosum
- Also known as
- xeroderma pigmentosum group type E · xeroderma pigmentosum, complementation group type E · xeroderma pigmentosum, group E, DDB-negative subtype · xeroderma pigmentosum, type 5 · XP-E
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