ORPHA:90342
Xeroderma pigmentosum variant
Also known as: XPV
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
577
Trials
0
Interventional, condition-specific
Researchers
913
Distinct authors in sample
Gene link
POLH
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010214
- MeSH:C536766
- OMIM:278750
- UMLS:C1848410
- NCIT:C141367
Additional Mondo synonyms (3)
photosensitivity with defective DNA synthesis · xeroderma pigmentosum variant type · xeroderma pigmentosum with normal DNA repair rates
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — POLH
- LiteraturePresent
577 matched papers (148 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 5 for broader category xeroderma pigmentosum
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (POLH).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
577
577 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
577 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
148 in the last 10 years · low confidence
Phrase hits: 577 · MeSH hits: 0
Who's working on it?
913
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Menck CFM16 papers · 2025
Departament of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 02Hanaoka F14 papers · 2015
Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamada-oka, Suita, Osaka 565-0871, Japan; Graduate School of Pharmaceutical Sciences, Osaka University, 1-6 Yamada-oka, Suita, Osaka 565-0871, Japan; Faculty of Science, Gakushuin University, 1-5-1 Mejiro, Toshima-ku, Tokyo 171-8588, Japan; Solution Oriented Research for Science and Technology, Japan Science and Technology Agency, Tokyo, Japan. Electronic address: fumio.hanaoka@gakushuin.ac.jp.
Papers in Europe PMC - 03Masutani C11 papers · 2015
Institute for Molecular and Cellular Biology, Osaka University and CREST, Japan Science and Technology Corporation, 1-3 Yamada-oka, Japan.
Papers in Europe PMC - 04Sarasin A9 papers · 2023
Centre National de la Recherche Scientifique UMR8200, Gustave Roussy, 94805, Villejuif, France.
Papers in Europe PMC - 05Munford V8 papers · 2025
Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 06Vaziri C8 papers · 2025
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. cyrus_vaziri@med.unc.edu.
Papers in Europe PMC - 07Carty MP6 papers · 2024
Biochemistry, School of Biological and Chemical Sciences, The National University of Ireland (NUI) Galway, Galway, Ireland.
Papers in Europe PMC - 08Castro LP6 papers · 2023
Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 09Despras E6 papers · 2022
Centre Nationale de Recherche Scientifique (CNRS) UMR8200, Laboratoire Stabilité Génétique et Oncogenèse, Université Paris-Sud, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94800 Villejuif, France.
Papers in Europe PMC - 10DiGiovanna JJ6 papers · 2021
Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 5 trials are registered for xeroderma pigmentosum, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
5 interventional trials matched xeroderma pigmentosum, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: xeroderma pigmentosum
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Xeroderma pigmentosum variant" OR "photosensitivity with defective DNA synthesis" OR "xeroderma pigmentosum variant type" OR "xeroderma pigmentosum with normal DNA repair rates"
MeSH descriptor terms unioned into the query: Xeroderma pigmentosum, variant type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Xeroderma pigmentosum variant" OR "photosensitivity with defective DNA synthesis" OR "xeroderma pigmentosum variant type" OR "xeroderma pigmentosum with normal DNA repair rates" OR "Xeroderma pigmentosum, variant type" OR "POLH"
Recall-expansion terms: POLH
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"xeroderma pigmentosum"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XPV
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (577) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:45:34.751Z