ORPHA:79273
Hereditary coproporphyria
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
693
84.2th percentile
Trials
2
Interventional, condition-specific
Researchers
886
Distinct authors in sample
Gene link
CPOX
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007369
- MeSH:D046349
- OMIM:121300
- UMLS:C0162531
- NCIT:C84759
Additional Mondo synonyms (2)
coproporphyrinogen oxidase deficiency · hereditary coproporphyria
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.
- Gene identifiedPresent
Strong — CPOX
- LiteraturePresent
693 matched papers (288 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
2 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?
Yes — we know a specific gene responsible (CPOX).
GenCC classification: Strong.
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?
693
693 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=5449) is 41.
693 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).
288 in the last 10 years · high confidence · 84.2th percentile (publications denominator)
Phrase hits: 693 · MeSH hits: 0
Who's working on it?
886
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.
- 01Bonkovsky HL13 papers · 2025
Section on Gastroenterology & Hepatology, and Molecular Medicine & Translational Science, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC 27157, United States of America. Electronic address: hbonkovs@wakehealth.edu.
Papers in Europe PMC - 02Wang B9 papers · 2026
Division of Gastroenterology, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, United States.
Papers in Europe PMC - 03Aucella F8 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Papers in Europe PMC - 04Ventura P8 papers · 2025
Internal Medicine and Centre for Hemochromatosis and Heredometabolic Liver Diseases, ERN-EuroBloodNet Center for Iron Disorders, Azienda Ospedaliero-Universitaria di Modena-Policlinico, 41124 Modena, Italy.
Papers in Europe PMC - 05Balwani M7 papers · 2025
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Papers in Europe PMC - 06Anderson KE6 papers · 2025
Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston.
Papers in Europe PMC - 07Edel Y6 papers · 2023
National Service for the Biochemical Diagnoses of Porphyrias, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Papers in Europe PMC - 08Gouya L6 papers · 2026
UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, HUPNVS Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Laboratory of Excellence Gr-Ex, France; Université Paris Diderot, UFR de Médecine Xavier Bichat, F-75018 Paris, France.
Papers in Europe PMC - 09Guida CC6 papers · 2024
Department of Nephrology & Dialisis - Interregional Reference Center for the prevention, surveillance, diagnosis and treatment of porphyria, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy. claudiocarmine.guida@tin.it.
Papers in Europe PMC - 10Stölzel U6 papers · 2025
Klinik für Innere Medizin II, Gastroenterologie, Hepatologie, Diabetologie, Infektiologie, Onkologie, Intensivmedizin, Klinikum Chemnitz gGmbH, 09009, Chemnitz, Deutschland. u.stoelzel@skc.de.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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
3 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.
"Hereditary coproporphyria" OR "coproporphyrinogen oxidase deficiency"
MeSH descriptor terms unioned into the query: Coproporphyria, Hereditary
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary coproporphyria" OR "coproporphyrinogen oxidase deficiency" OR "Coproporphyria, Hereditary" OR "CPOX"
Recall-expansion terms: CPOX
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: 2 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T02:11:19.062Z