Xeroderma pigmentosum

rare

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).

Identifiers: MONDO:0019600 Orphanet:910
Part of: DNA repair disease Hereditary photodermatosis
Also known as: angioma pigmentosum atrophicum · atrophoderma pigmentosum · Kaposi dermatosis · Kaposi disease · melanosis lenticularis progressiva

Subtypes

All diseases Rare only

Disease	ID	Genes
Xeroderma pigmentosum group A	MONDO:0010210	XPA
Xeroderma pigmentosum group B	MONDO:0012531	ERCC3
Xeroderma pigmentosum group C	MONDO:0010211	XPC
Xeroderma pigmentosum group D	MONDO:0010212	ERCC2
Xeroderma pigmentosum group E	MONDO:0010213	DDB2
Xeroderma pigmentosum group F	MONDO:0010215	ERCC4
Xeroderma pigmentosum group G	MONDO:0010216	ERCC5
Xeroderma pigmentosum variant type	MONDO:0010214	POLH
Xeroderma pigmentosum, autosomal dominant, mild	MONDO:0008690
Xeroderma pigmentosum, complementation group J	MONDO:0980987

Rare disease

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