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ORPHA:49041

IgG4-related retroperitoneal fibrosis

high confidenceSubtype of disorder

Also known as: Idiopathic retroperitoneal fibrosis · Ormond disease

Publications

7,204

92.2th percentile

Trials

8

Interventional, condition-specific

Researchers

1,126

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Retroperitoneal Fibrosis · idiopathic retroperitoneal fibrosis · retroperitoneal fibrosis

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    7,204 matched papers (3,009 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Abdominal pain; Anorexia; Increased blood urea nitrogen) 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 trialPresent

    8 matched on ClinicalTrials.gov (2 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)

43

Associated phenotypes · MONDO:0018848

  • Abdominal pain
  • Anorexia
  • Increased blood urea nitrogen
  • Elevated circulating creatinine concentration
  • Fatigue

Showing 5 of 43 — 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 2026-07-27

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

4

Drugs / clinical candidates · MONDO_0018848

CTD chemicals (MyDisease.info)

10 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Acetaminophen · marker/mechanism
  • Aspirin · marker/mechanism
  • Bromocriptine · marker/mechanism
  • Cabergoline · marker/mechanism
  • Cocaine · marker/mechanism
  • Codeine · marker/mechanism
  • Methysergide · marker/mechanism
  • Metoprolol · marker/mechanism
  • Pergolide · marker/mechanism
  • Phenacetin · marker/mechanism

MyDisease.info · MONDO:0018848

Literature

Is anyone studying this?

7,204

7,204 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.

7,204 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).

3,009 in the last 10 years · high confidence · 92.2th percentile (publications denominator)

Phrase hits: 7,204 · MeSH hits: 158

Open Europe PMC search

Who's working on it?

1,126

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
    Ishii H5 papers · 2026

    Department of Respiratory Medicine, Fukuoka University Chikushi Hospital, Chikushino, Japan. Electronic address: hishii@fukuoka-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Kinoshita Y5 papers · 2026

    Department of Respiratory Medicine, Fukuoka University Chikushi Hospital, Chikushino, Japan.

    Papers in Europe PMC
  3. 03
    Kushima H5 papers · 2026

    Department of Respiratory Medicine, Fukuoka University Chikushi Hospital, Chikushino, Japan.

    Papers in Europe PMC
  4. 04
    Li Z5 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
  5. 05
    Wang Y5 papers · 2025

    Department of Rheumatology, Third Hospital of Shanxi Medical University, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Taiyuan, Shanxi, China.

    Papers in Europe PMC
  6. 06
    Gao H4 papers · 2026

    Department of Rheumatology and Immunology, Beijing Tsinghua Changgung Hospital, Beijing, China. gaohui_2025@163.com.

    Papers in Europe PMC
  7. 07
    Li Y4 papers · 2025

    Department of Radiology, The Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, China.

    Papers in Europe PMC
  8. 08
    Liu Y4 papers · 2025

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

    Papers in Europe PMC
  9. 09
    Wang Z4 papers · 2021

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

    Papers in Europe PMC
  10. 10
    Zhang X4 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

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 9 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 41 · after dedupe 41 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 38 · fetched 2026-07-27

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 (3)

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 retroperitoneal fibrosis — 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 retroperitoneal fibrosis" OR "Idiopathic retroperitoneal fibrosis" OR "Ormond disease" OR "Retroperitoneal Fibrosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Retroperitoneal Fibrosis

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

"IgG4-related retroperitoneal fibrosis" OR "Idiopathic retroperitoneal fibrosis" OR "Ormond disease" OR "Retroperitoneal Fibrosis"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-26T02:05:22.135Z