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ORPHA:910

Xeroderma pigmentosum

medium confidenceDisorder

Publications

15,929

94.8th percentile

Trials

6

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

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).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (9)

Kaposi dermatosis · Kaposi disease · XP · angioma pigmentosum atrophicum · atrophoderma pigmentosum · melanosis lenticularis progressiva · pigmented epitheliomatosis · xeroderma of Kaposi · xeroderma pigmentosum syndrome

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    15,929 matched papers (5,256 in last 10 years) Source

  3. Phenotype characterisedPresent

    251 HPO annotations (e.g. Hypogonadism; Abnormality of the dentition; Microcephaly) Source

  4. Animal modelPresent

    19 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. Pro-Pro-Thr-Val-Pro-Thr-Arg Source

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

251

Associated phenotypes · MONDO:0019600

  • Hypogonadism
  • Abnormality of the dentition
  • Microcephaly
  • Sensorineural hearing impairment
  • Strabismus

Showing 5 of 251 — open Monarch for the full list.

Animal models (Monarch / Alliance)

19

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 1 with FDA orphan-indication approval

  • FDA Pro-Pro-Thr-Val-Pro-Thr-ArgXeroderma Pigmentosum · 2017-07-27 · Not FDA Approved for Orphan Indication
  • EMA afamelanotideTreatment of xeroderma pigmentosum · 24/05/2024 · PositiveEMA designation
  • EMA Pro-Pro-Thr-Val-Pro-Thr-ArgTreatment of xeroderma pigmentosum · 19/11/2014 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0019600

CTD chemicals (MyDisease.info)

1 associated chemical · 24 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Tretinoin · therapeutic

Pathways: Platinum drug resistance; Nucleotide excision repair; Fanconi anemia pathway; Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template; Translesion Synthesis by POLH; SUMOylation; SUMOylation of DNA damage response and repair proteins; SUMO E3 ligases SUMOylate target proteins

MyDisease.info · MONDO:0019600

Literature

Is anyone studying this?

15,929

15,929 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

15,929 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,256 in the last 10 years · medium confidence · 94.8th percentile (publications denominator)

Phrase hits: 15,929 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,139

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Fassihi H8 papers · 2026

    National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, UK.

    Papers in Europe PMC
  2. 02
    Lehmann AR5 papers · 2026

    National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, and.

    Papers in Europe PMC
  3. 03
    Nishigori C5 papers · 2026

    Department of Dermatology, Kobe University School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  4. 04
    Fawcett H4 papers · 2026

    Genome Damage and Stability Centre, University of Sussex, Brighton, UK.

    Papers in Europe PMC
  5. 05
    Gupta S4 papers · 2026

    Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  6. 06
    Sarkany R4 papers · 2026

    National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, UK.

    Papers in Europe PMC
  7. 07
    Wang Q4 papers · 2026

    Department of Gastroenterology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.

    Papers in Europe PMC
  8. 08
    Ahuja R3 papers · 2025

    Department of Dermatology and Venereology, AIIMS, New Delhi, India.

    Papers in Europe PMC
  9. 09
    Bertolotti A3 papers · 2026

    CHU Reunion Island, CIC INSERM1410, Saint-Pierre, Reunion Island; CHU Reunion Island, Infectious Diseases - Dermatology Department, Saint-Pierre, Reunion Island, France.

    Papers in Europe PMC
  10. 10
    Bhari N3 papers · 2025

    Department of Dermatology and Venereology, AIIMS, New Delhi, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

medium confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (15)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Xeroderma pigmentosum — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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" OR "Kaposi dermatosis" OR "Kaposi disease" OR "angioma pigmentosum atrophicum" OR "atrophoderma pigmentosum" OR "melanosis lenticularis progressiva" OR "pigmented epitheliomatosis" OR "xeroderma of Kaposi" OR "xeroderma of the Kaposi" OR "xeroderma pigmentosum syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Xeroderma pigmentosum" OR "Kaposi dermatosis" OR "Kaposi disease" OR "angioma pigmentosum atrophicum" OR "atrophoderma pigmentosum" OR "melanosis lenticularis progressiva" OR "pigmented epitheliomatosis" OR "xeroderma of Kaposi" OR "xeroderma of the Kaposi" OR "xeroderma pigmentosum syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: XP

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

Ingested 2026-07-26T15:53:14.998Z