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ORPHA:300345

Autosomal systemic lupus erythematosus

low confidenceDisorder

Also known as: Autosomal SLE · Familial SLE · Familial systemic lupus erythematosus

Publications

2,082

Trials

0

Interventional, condition-specific

Researchers

1,344

Distinct authors in sample

Gene link

DNASE1L3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

SLEB16 · systemic lupus erythematosus 16 · systemic lupus erythematosus related to DNASE1L3 · systemic lupus erythematosus type 16

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — DNASE1L3

  2. LiteraturePresent

    2,082 matched papers (1,613 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Lupus nephritis; Anti-dsDNA antibody positivity; Antinuclear antibody positivity) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 803 for broader category systemic lupus erythematosus

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 (DNASE1L3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0013743

  • Lupus nephritis
  • Anti-dsDNA antibody positivity
  • Antinuclear antibody positivity
  • Systemic lupus erythematosus
  • Decreased circulating complement C3 concentration

Showing 5 of 7 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

2,082

2,082 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=3967) is 59.

2,082 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).

1,613 in the last 10 years · low confidence

Phrase hits: 751 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,344

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
    Zhang L9 papers · 2026

    Ventus Therapeutics, Waltham, MA, USA.

    Papers in Europe PMC
  2. 02
    Wang X7 papers · 2026

    Dermatology Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Chen J5 papers · 2026

    Nanhu Laboratory, National Center of Biomedical Analysis, Beijing, 100850, China.

    Papers in Europe PMC
  4. 04
    Crow YJ5 papers · 2024

    Genetic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK. Electronic address: yanickcrow@mac.com.

    Papers in Europe PMC
  5. 05
    Liu Z5 papers · 2025

    State Key Laboratory of Molecular Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.

    Papers in Europe PMC
  6. 06
    Wang Y5 papers · 2025

    Department of Rheumatism and Immunity, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China.

    Papers in Europe PMC
  7. 07
    Günther C4 papers · 2022

    Faculty of Medicine, Paul Langerhans Institute Dresden of Helmholtz Centre Munich at University Clinic Carl Gustav Carus of Technische Univeristät (TU) Dresden, Dresden, Germany.

    Papers in Europe PMC
  8. 08
    Lee-Kirsch MA4 papers · 2024

    Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

    Papers in Europe PMC
  9. 09
    Li M4 papers · 2024

    MOE Key Laboratory for Cellular Dynamics, University of Science & Technology of China School of Life Sciences, Hefei, China.

    Papers in Europe PMC
  10. 10
    Li Q4 papers · 2025

    Department of Tuberculosis, Beijing Chest Hospital, Capital Medical University, Beijing Tuberculosis and Thoracic Tumor Research Institute, Beijing, People's Republic of 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). 803 trials are registered for systemic lupus erythematosus, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

low 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.

803 interventional trials matched systemic lupus erythematosus, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: systemic lupus erythematosus

803

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

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 Autosomal systemic lupus erythematosus — 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.

("Autosomal systemic lupus erythematosus" OR "Autosomal SLE" OR "Familial SLE" OR "Familial systemic lupus erythematosus" OR "SLEB16" OR "systemic lupus erythematosus 16" OR "systemic lupus erythematosus related to DNASE1L3" OR "systemic lupus erythematosus type 16") OR ("DNASE1L3" OR "DNASE1L3 syndrome" OR "DNASE1L3-related")

Run this search on Europe PMC

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

"Autosomal systemic lupus erythematosus" OR "Autosomal SLE" OR "Familial SLE" OR "Familial systemic lupus erythematosus" OR "SLEB16" OR "systemic lupus erythematosus 16" OR "systemic lupus erythematosus related to DNASE1L3" OR "systemic lupus erythematosus type 16"

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

Parent-category trials query:

"systemic lupus erythematosus"

Query health: ok — strategies attempted: phrase; 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
  • Publication count (2082) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:39:50.820Z