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ORPHA:171723

White sponge nevus

high confidenceDisorder

Also known as: Hereditary mucosal leukokeratosis · White sponge nevus of Cannon

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

303

58.8th percentile

Trials

0

Interventional, condition-specific

Researchers

922

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

White sponge nevus (WSN) is a rare and genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

hereditary mucosal leukokeratosis · white sponge nevus · white sponge nevus of Cannon

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    303 matched papers (113 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Hyperparakeratosis; Edema; Epidermal acanthosis) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

5

Associated phenotypes · MONDO:0015748

  • Hyperparakeratosis
  • Edema
  • Epidermal acanthosis
  • Abnormal conjunctiva morphology
  • Oral leukoplakia

Animal models (Monarch / Alliance)

3

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

303

303 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

303 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).

113 in the last 10 years · high confidence · 58.8th percentile (publications denominator)

Phrase hits: 303 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

922

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.

  1. 01
    Liu J5 papers · 2018

    School of Information and Control Engineering, China University of Mining and Technology, Xuzhou, 221116, China.

    Papers in Europe PMC
  2. 02
    Liu S5 papers · 2016

    Department of Hematology-Oncology, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.

    Papers in Europe PMC
  3. 03
    McLean WH5 papers · 2018
    Papers in Europe PMC
  4. 04
    Wang X5 papers · 2018

    School of Information and Control Engineering, China University of Mining and Technology, Xuzhou, 221116, China. wangxuesongcumt@163.com.

    Papers in Europe PMC
  5. 05
    Yang J5 papers · 2018

    Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.

    Papers in Europe PMC
  6. 06
    Cai W4 papers · 2015

    Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.

    Papers in Europe PMC
  7. 07
    Chen Z4 papers · 2015

    Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.

    Papers in Europe PMC
  8. 08
    Jiang B4 papers · 2015

    Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China.

    Papers in Europe PMC
  9. 09
    Zhang L4 papers · 2026

    School of Information and Control Engineering, China University of Mining and Technology, Xuzhou, 221116, China.

    Papers in Europe PMC
  10. 10
    Chen Y3 papers · 2025

    State Key Laboratory of Animal Biotech Breeding, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193, China.

    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).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 White sponge nevus — 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.

"White sponge nevus" OR "Hereditary mucosal leukokeratosis" OR "White sponge nevus of Cannon" OR "White sponge nevus of the Cannon"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukokeratosis, Hereditary Mucosal

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

"White sponge nevus" OR "Hereditary mucosal leukokeratosis" OR "White sponge nevus of Cannon" OR "White sponge nevus of the Cannon" OR "Leukokeratosis, Hereditary Mucosal"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:43:10.052Z