xeroderma pigmentosum
Findings
No curated finding names xeroderma pigmentosum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0019600), read 2026-09-29. CC BY 4.0.
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Conjunctival telangiectasiaHPOHP:0000524
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- FrecklingHPOHP:0001480
- Very frequent (80% to 99% of cases)
Show the remaining 47
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- Very frequent (80% to 99% of cases)
- TelangiectasiaHPOHP:0001009
- Very frequent (80% to 99% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Very frequent (80% to 99% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DDB2HGNC:2718
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC2HGNC:3434
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC3HGNC:3435
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC4HGNC:3436
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC5HGNC:3437
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (10)
- xeroderma pigmentosum group A
- xeroderma pigmentosum group B
- xeroderma pigmentosum group C
- xeroderma pigmentosum group D
- xeroderma pigmentosum group E
- xeroderma pigmentosum group F
- xeroderma pigmentosum group G
- xeroderma pigmentosum variant type
- xeroderma pigmentosum, autosomal dominant, mild
- xeroderma pigmentosum, complementation group J
Other names
9 names
Resolves to: xeroderma pigmentosum
- Also called
- angioma pigmentosum atrophicumatrophoderma pigmentosumKaposi dermatosisKaposi diseasemelanosis lenticularis progressivapigmented epitheliomatosisxeroderma of Kaposixeroderma pigmentosum syndromeXP