xeroderma pigmentosum variant type
Findings
No curated finding names xeroderma pigmentosum variant type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Definition from the Mondo Disease Ontology (MONDO:0010214), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cutaneous telangiectasiaHPOHP:0034697
- 1 of 1 reported patient
- Freckles in sun-exposed areasHPOHP:0007603
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Squamous cell carcinomaHPOHP:0002860
- 4 of 10 reported patients
- Frequent (30% to 79% of cases)
- TelangiectasiaHPOHP:0001009
- Frequent (30% to 79% of cases)
- Cutaneous melanomaHPOHP:0012056
- 0 of 10 reported patients
- Growth delayHPOHP:0001510
- 0 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 0 of 1 reported patient
Genes
1 gene
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.
- POLHHGNC:9181
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: xeroderma pigmentosum variant type
- Also called
- photosensitivity with defective DNA synthesisxeroderma pigmentosum with normal DNA repair ratesXPV