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ORPHA:596448

IgG4-related systemic disease

low confidenceDisorder

Publications

8,699

Trials

37

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic autoimmune disease characterized by mass-forming lesions with a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform fibrosis, often displaying obliterative phlebitis, and usually accompanied by elevated serum IgG4. Almost any organ may be affected, with pancreas, salivary gland, and orbit being the most common. Multi-organ involvement (synchronously or metachronously) is typical. Many patients show lymphadenopathy, most often involving the mediastinal, intra-abdominal, axillary, and cervical nodes. Symptoms are usually attributable to the mass effect of the lesions.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

IgG4-RD · IgG4-related disease · IgG4-related sclerosing disease · immunoglobulin G4-related sclerosing disease

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

    8,699 matched papers (6,816 in last 10 years) Source

  3. Phenotype characterisedPresent

    321 HPO annotations (e.g. Reduced circulating complement concentration; Decreased circulating complement C3 concentration; Increased circulating IgG1 concentration) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Humanised Fc-engineered monoclonal antibody against CD19 Source

  6. Interventional trialPresent

    37 matched on ClinicalTrials.gov (15 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?

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

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

Phenotypes (Monarch / HPO)

321

Associated phenotypes · MONDO:0017287

  • Reduced circulating complement concentration
  • Decreased circulating complement C3 concentration
  • Increased circulating IgG1 concentration
  • Prostatitis
  • Enlarged kidney

Showing 5 of 321 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA Humanised Fc-engineered monoclonal antibody against CD19Treatment of IgG4-related disease · 17/01/2018 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

21

Drugs / clinical candidates · MONDO_0017287

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,699

8,699 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.

8,699 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).

6,816 in the last 10 years · low confidence

Phrase hits: 8,699 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

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
    Zhang W11 papers · 2026

    Department of Rheumatology, National Clinical Research Center for Dermatologic and Immunologic Diseases, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China. Electronic address: zhangwen91@sina.com.

    Papers in Europe PMC
  2. 02
    Liu Y9 papers · 2026

    Department of Rheumatology, Beijing Friendship Hospital, Capital Medical University, No.95 Yong'an Road, Xicheng District, Beijing, China. Liuyanying6850@126.com.

    Papers in Europe PMC
  3. 03
    Zhang J9 papers · 2026

    Department of Clinical Laboratory, State Key Laboratory of Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  4. 04
    Wang Y8 papers · 2026

    Key Laboratory of Cell Biology and Key Laboratory of Medical Cell Biology, Department of Developmental Cell Biology, Ministry of Public Health and Ministry of Education, China Medical University, Shenyang, China.

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

    Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China. Electronic address: liyz@pumch.cn.

    Papers in Europe PMC
  6. 06
    Li Z6 papers · 2026

    Department of Rheumatology and Immunology, Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis, Peking University People's Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Peng L5 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Zhou J5 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Fei Y4 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Feng Y4 papers · 2026

    Department of Ophthalmology, State Key Laboratory of Eye Health, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 15 currently recruiting in our sample.

Data as of 11 September 2026

37 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.5th percentile).

low confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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).

Uncertain / not reviewed (14)

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 IgG4-related systemic disease — 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.

"IgG4-related systemic disease" OR "IgG4-RD" OR "IgG4-related disease" OR "IgG4-related sclerosing disease" OR "immunoglobulin G4-related sclerosing disease"

Run this search on Europe PMC

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

"IgG4-related systemic disease" OR "IgG4-RD" OR "IgG4-related disease" OR "IgG4-related sclerosing disease" OR "immunoglobulin G4-related sclerosing disease"

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: 37 interventional · 11 observational · 1 expanded access. Only interventional studies enter the trial headline.

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 (8699) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:51:05.250Z