ORPHA:137617
Nephrogenic systemic fibrosis
Also known as: Nephrogenic fibrosing dermopathy
Publications
5,012
Trials
5
Interventional, condition-specific
Researchers
1,071
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015294
- MeSH:D054989
- UMLS:C3888044
- NCIT:C84920
Additional Mondo synonyms (1)
nephrogenic fibrosing dermopathy
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5,012 matched papers (2,703 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
5 matched on ClinicalTrials.gov
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)
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?
5,012
5,012 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.
5,012 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).
2,703 in the last 10 years · low confidence
Phrase hits: 5,012 · MeSH hits: 18
Who's working on it?
1,071
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.
- 01
- 02Davenport MS6 papers · 2023
From the Department of Radiology, Michigan Medicine, 1500 E Medical Center Dr, B2-A209A, Ann Arbor, MI 48109.
Papers in Europe PMC - 03DeAguero J5 papers · 2026
Kidney Institute of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.
Papers in Europe PMC - 04Escobar GP4 papers · 2026
Kidney Institute of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, New Mexico 87106, United States.
Papers in Europe PMC - 05Endrikat J3 papers · 2026
From the Bayer AG, Radiology, Berlin, Germany (J.E., L.S., C.H.); Department of Gynecology, Obstetrics, and Reproductive Medicine, University Medical School of Saarland, Homburg/Saar, Germany (J.E.); Department of Diagnostic and Interventional Radiology, University of Leipzig, Heart Center, Leipzig, Germany (M.G.); Department of Neuroradiology, University of Leipzig, Leipzig, Germany (K.-T.H.); Bayer US LLC, Benefit Risk Management Pharmacovigilance, Whippany, NJ (A.B.); and Department of Radiology and Nuclear Medicine, University Hospital Schleswig Holstein-Campus Luebeck, Luebeck, Germany (J.B.).
Papers in Europe PMC - 06Reeder SB3 papers · 2025
From the Departments of Radiology (J.S., R.J.B., E.A.S., S.B.R.), Obstetrics and Gynecology (E.A.S.), Medical Physics (S.B.R.), Biomedical Engineering (S.B.R.), Medicine (S.B.R.), and Emergency Medicine (S.B.R.), University of Wisconsin, 600 Highland Ave, Madison, WI 53792.
Papers in Europe PMC - 07Schieda N3 papers · 2023
From the Department of Medical Imaging, The Ottawa Hospital, 1053 Carling Ave, Room C159, Ottawa, ON, Canada K1Y 4E9 (N.S., D.W.); Department of Diagnostic Imaging, Juravinski Cancer Centre, Hamilton, Canada (C.B.v.d.P.); Clinical Research Unit, Children's Hospital of Eastern Ontario, Ottawa, Canada (A.K.T.); Department of Radiology, Sunnybrook Health Sciences Centre, Toronto, Canada (P.J.M.); Department of Radiology, Memorial Sloan-Kettering Cancer Center, New York, NY (S.W.); and Department of Radiology, University of Michigan Medical Center, Ann Arbor, Mich (M.S.D.).
Papers in Europe PMC - 08Starekova J3 papers · 2025
From the Departments of Radiology (J.S., R.J.B., E.A.S., S.B.R.), Obstetrics and Gynecology (E.A.S.), Medical Physics (S.B.R.), Biomedical Engineering (S.B.R.), Medicine (S.B.R.), and Emergency Medicine (S.B.R.), University of Wisconsin, 600 Highland Ave, Madison, WI 53792.
Papers in Europe PMC - 09Zhang Y3 papers · 2025
School of Medical Imaging, Tianjin Medical University, Tianjin 300203, China.
Papers in Europe PMC - 10Zhao Y3 papers · 2026
Department of Chemistry, Physics and Atmospheric Science, Jackson State University, Jackson, MS 39217, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
low confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
6 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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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.
"Nephrogenic systemic fibrosis" OR "Nephrogenic fibrosing dermopathy"
MeSH descriptor terms unioned into the query: Nephrogenic Fibrosing Dermopathy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nephrogenic systemic fibrosis" OR "Nephrogenic fibrosing dermopathy"
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: 5 interventional · 6 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
- Publication count (5012) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T07:26:12.721Z