raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:910

Xeroderma pigmentosum

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
All ages
Status
active

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).

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enXeroderma pigmentosum
frXeroderma pigmentosum
deXeroderma pigmentosumXP
esXeroderma pigmentoso
itXeroderma pigmentosoXP
nlXeroderma pigmentosum
ptXeroderma pigmentoso
plSkóra pergaminowaXP
csXeroderma pigmentosumXP
ukПігментна ксеродерма
zh着色性干皮病
trKseroderma pigmentozum

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM278700BTNTvalidated
OMIM278720BTNTvalidated
OMIM278730BTNTvalidated
OMIM278740BTNTvalidated
OMIM278760BTNTvalidated
OMIM278780BTNTvalidated
OMIM610651BTNTvalidated
ICD-10Q82.1Especificvalidated
ICD-11LD27.1Especificvalidated
MONDO0019600Evalidated
MeSHD014983Evalidated
UMLSC0043346Evalidated
GARD7910Evalidated
MedDRA10048220Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (13):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

7 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
DDB2Disease-causing germline mutation(s) inAssessedHGNC:2718ENSG0000013457460081111p11.2damage specific DNA binding protein 220301571[PMID]
ERCC2Disease-causing germline mutation(s) inAssessedHGNC:3434ENSG0000010488412634019q13.32ERCC excision repair 2, TFIIH core complex helicase subunit20301571[PMID]
ERCC3Disease-causing germline mutation(s) inAssessedHGNC:3435ENSG000001631611335102q14.3ERCC excision repair 3, TFIIH core complex helicase subunit20301571[PMID]
ERCC4Disease-causing germline mutation(s) inAssessedHGNC:3436ENSG0000017559513352016p13.12ERCC excision repair 4, endonuclease catalytic subunit20301571[PMID]
ERCC5Disease-causing germline mutation(s) inAssessedHGNC:3437ENSG0000013489913353013q33.1ERCC excision repair 5, endonuclease20301571[PMID]
XPADisease-causing germline mutation(s) inAssessedHGNC:12814ENSG000001369366111539q22.33XPA, DNA damage recognition and repair factor20301571[PMID]
XPCDisease-causing germline mutation(s) inAssessedHGNC:12816ENSG000001547676132083p25.1XPC complex subunit, DNA damage recognition and repair factor20301571[PMID]
5

Prevalence and incidence

9 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.1 / 100 000United StatesValue and classValidated[EXPERT]
Point prevalence1-9 / 100 0004.5 / 100 000JapanValue and classValidated16905156[PMID]
Prevalence at birth1-9 / 1 000 0000.23 / 100 000EuropeValue and classNot yet validated18329345[PMID]
Prevalence at birth1-9 / 1 000 0000.19 / 100 000United KingdomValue and classValidated18329345[PMID]
Prevalence at birth1-9 / 1 000 0000.41 / 100 000NetherlandsValue and classValidated18329345[PMID]
Prevalence at birth1-9 / 1 000 0000.16 / 100 000ItalyValue and classValidated18329345[PMID]
Prevalence at birth1-9 / 1 000 0000.34 / 100 000FranceValue and classValidated18329345[PMID]
Prevalence at birth1-9 / 1 000 0000.18 / 100 000GermanyValue and classValidated18329345[PMID]
Annual incidence1-9 / 100 0001.75 / 100 000Libyan Arab JamahiriyaValue and classNot yet validated10440281[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

59 annotations · validated 2016-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000164Abnormality of the dentition
HP:0002829Arthralgia
HP:0100543Cognitive impairment
HP:0000524Conjunctival telangiectasia
HP:0000992Cutaneous photosensitivity
HP:0002376Developmental regression
HP:0000958Dry skin
HP:0002353EEG abnormality
HP:0001508Failure to thrive
HP:0012378Fatigue
HP:0001945Fever
HP:0001480Freckling
HP:0000135Hypogonadism
HP:0006887Intellectual disability, progressive
HP:0000648Optic atrophy
HP:0001029Poikiloderma
HP:0001009Telangiectasia
HP:0100585Telangiectasia of the skin
HP:0001072Thickened skin
HP:0000963Thin skin
Frequent (79-30%)
HP:0000518Cataract
HP:0000028Cryptorchidism
HP:0004334Dermal atrophy
HP:0010783Erythema
HP:0000962Hyperkeratosis
HP:0001034Hypermelanotic macule
HP:0001053Hypopigmented skin patches
HP:0000491Keratitis
HP:0012733Macule
HP:0002861Melanoma
HP:0012740Papilloma
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
Occasional (29-5%)
HP:0002071Abnormality of extrapyramidal motor function
HP:0001596Alopecia
HP:0003355Aminoaciduria
HP:0009755Ankyloblepharon
HP:0001251Ataxia
HP:0000498Blepharitis
HP:0002120Cerebral cortical atrophy
HP:0004493Craniofacial hyperostosis
HP:0008734Decreased testicular size
HP:0002750Delayed skeletal maturation
HP:0000656Ectropion
HP:0000621Entropion
HP:0010649Flat nasal alae
HP:0000365Hearing impairment
HP:0000995Melanocytic nevus
HP:0000252Microcephaly
HP:0002664Neoplasm
HP:0100012Neoplasm of the eye
HP:0007759Opacification of the corneal stroma
HP:0009830Peripheral neuropathy
HP:0000613Photophobia
HP:0001059Pterygium
HP:0001315Reduced tendon reflexes
HP:0001250Seizure
HP:0004322Short stature
HP:0001257Spasticity

Run the differential on the 12 obligate / very frequent terms

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Sources for this card