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ORPHA:905

Wilson disease

medium confidenceDisorder

Also known as: Hepatolenticular degeneration

Publications

20,553

98.4th percentile

Trials

42

Interventional, condition-specific

Researchers

1,104

Distinct authors in sample

Gene link

ATP7B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Westphal-Strumpell syndrome · Wilson's disease · hepatolenticular degeneration

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

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

  1. Gene identifiedPresent

    Definitive — ATP7B

  2. LiteraturePresent

    20,553 matched papers (8,848 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    42 matched on ClinicalTrials.gov (10 recruiting in sample)

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 (ATP7B).

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?

20,553

20,553 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=5449) is 41.

20,553 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).

8,848 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 20,553 · MeSH hits: 67

Open Europe PMC search

Who's working on it?

1,104

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
    Wang X12 papers · 2026

    Tsinghua Institute of Multidisciplinary Biomedical Research, Tsinghua University, Beijing 100084, China; National Institute of Biological Sciences, Beijing 102206, China. Electronic address: wangxiaodong@nibs.ac.cn.

    Papers in Europe PMC
  2. 02
    Yang W11 papers · 2026

    The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, China.

    Papers in Europe PMC
  3. 03
    Li Y8 papers · 2026

    National Institute of Biological Sciences, Beijing 102206, China.

    Papers in Europe PMC
  4. 04
    Wang M7 papers · 2026

    Department of Gastroenterology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Wang Y7 papers · 2026

    School of Nursing, Anhui University of Traditional Chinese Medicine, Hefei, 230031, China.

    Papers in Europe PMC
  6. 06
    Poujois A6 papers · 2026

    Department of Neurology, Rare Disease Reference Centre "Wilson's Disease and Other Copper-related Rare Diseases", Rothschild Foundation Hospital, Paris, France.

    Papers in Europe PMC
  7. 07
    Wang H6 papers · 2026

    Department of Neurology, the First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei 230031, China. neuwhah@126.com.

    Papers in Europe PMC
  8. 08
    Yang Y6 papers · 2026

    School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang, 453003, China.

    Papers in Europe PMC
  9. 09
    Han Y5 papers · 2026

    Institute of Neurology, Anhui University of Traditional Chinese Medicine, Hefei, 230038, China; Wannan Medical College, Wuhu, 241002, China; Center for Xin'an Medicine and Modernization of Traditional Chinese Medicine of IHM, Anhui University of Chinese Medicine, Hefei, 230012, China. Electronic address: hyssp@126.com.

    Papers in Europe PMC
  10. 10
    Litwin T5 papers · 2026

    2nd, Department of Neurology, Institute of Psychiatry and Neurology, ul. Sobieskiego 9, 02-957, Warsaw, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

42

interventional trials for this specific condition

42 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 27 July 2026

42 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.7th percentile).

medium confidence · 96.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

33 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

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 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Wilson disease" OR "Hepatolenticular degeneration" OR "Westphal-Strumpell syndrome" OR "Wilson's disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hepatolenticular Degeneration

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

"Wilson disease" OR "Hepatolenticular degeneration" OR "Westphal-Strumpell syndrome" OR "Wilson's disease" OR "ATP7B"

Recall-expansion terms: ATP7B

Interventional trials matched via: both, 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: 42 interventional · 33 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:51:40.035Z