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ORPHA:536

Systemic lupus erythematosus

medium confidenceDisorder

Also known as: Disseminated lupus erythematosus · SLE

Publications

196,932

99.9th percentile

Trials

852

Interventional, condition-specific

Researchers

1,348

Distinct authors in sample

Gene link

DNASE1, FCGR2B, P2RY8

Definitive

Readiness

3/6

Stages with a signal

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

SLE - lupus erythematosus, systemic · disseminated lupus erythematosus · lupus erythematosus, systemic · systemic lupus erythematosus · systemic lupus erythematosus (disease) · systemic lupus erythematosus susceptibility to

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 — DNASE1, FCGR2B, P2RY8, PACSIN1, PRKCD…

  2. LiteraturePresent

    196,932 matched papers (102,681 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

    852 matched on ClinicalTrials.gov (243 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 (DNASE1, FCGR2B, P2RY8…).

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?

196,932

196,932 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.

196,932 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).

102,681 in the last 10 years · medium confidence · 99.9th percentile (publications denominator)

Phrase hits: 196,932 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,348

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 Y7 papers · 2026

    Department of Pediatrics, The First People's Hospital of Yunnan Province, Kunming, China.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2026

    Department of gynaecology and obstetrics, China Medical University, Chaoyang Central Hospital, No. 6, Section 2 of Chaoyang Avenue, Shuangta District, Chaoyang, 122000, Liaoning, China.

    Papers in Europe PMC
  3. 03
    Li S6 papers · 2026

    Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  4. 04
    Li X6 papers · 2026

    Department of Rheumatology & Immunology, Peking University People's Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Li Y6 papers · 2026

    Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children Beijing Key Laboratory of Precision Diagnosis and Treatment of Pediatric Immune Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  6. 06
    Wang L6 papers · 2026

    Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing.

    Papers in Europe PMC
  7. 07
    Wang X6 papers · 2026

    The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.

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

    Department of Rheumatology and Immunology, Weifang No. 2 People's Hospital, Weifang, Shandong, China. Electronic address: 17865367335@163.com.

    Papers in Europe PMC
  9. 09
    Li Z5 papers · 2026

    Department of Rheumatology & Immunology, Peking University People's Hospital, Beijing, China. Electronic address: li99@bjmu.edu.cn.

    Papers in Europe PMC
  10. 10
    Liu C5 papers · 2026

    Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical University, Taipei, Taiwan, R.O.C.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

852

interventional trials for this specific condition

852 interventional trials matched this specific condition name; 243 currently recruiting in our sample. 67 trials are registered for lupus erythematosus, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

852 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.9th percentile).

medium confidence · 99.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: lupus erythematosus

67

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.

Recruiting under the broader category

Observational and natural-history studies

290 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

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.

"Systemic lupus erythematosus" OR "Disseminated lupus erythematosus" OR "SLE - lupus erythematosus, systemic" OR "lupus erythematosus, systemic" OR "systemic lupus erythematosus (disease)" OR "systemic lupus erythematosus susceptibility to"

Run this search on Europe PMC

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

"Systemic lupus erythematosus" OR "Disseminated lupus erythematosus" OR "SLE - lupus erythematosus, systemic" OR "lupus erythematosus, systemic" OR "systemic lupus erythematosus (disease)" OR "systemic lupus erythematosus susceptibility to" OR "DNASE1" OR "FCGR2B" OR "P2RY8" OR "PACSIN1" OR "PRKCD" OR "SAT1" OR "TREX1" OR "UNC93B1"

Recall-expansion terms: DNASE1, FCGR2B, P2RY8, PACSIN1, PRKCD, SAT1, TREX1, UNC93B1

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: 852 interventional · 290 observational · 3 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lupus erythematosus"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SLE

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 2026-07-26T14:14:35.349Z