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ORPHA:79273

Hereditary coproporphyria

high confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,629

87.2th percentile

Trials

2

Interventional, condition-specific

Researchers

886

Distinct authors in sample

Gene link

CPOX

Strong

Readiness

6/6

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.

Orphanet entry

Cross-references

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

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — CPOX

  2. LiteraturePresent

    1,629 matched papers (967 in last 10 years) Source

  3. Phenotype characterisedPresent

    58 HPO annotations (e.g. Abdominal pain; Abnormal circulating porphyrin concentration; Atypical scarring of skin) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. Hemin Source

  6. 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)

58

Associated phenotypes · MONDO:0007369

  • Abdominal pain
  • Abnormal circulating porphyrin concentration
  • Atypical scarring of skin
  • Episodic vomiting
  • Porphyrinuria

Showing 5 of 58 — 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

  • FDA Hemin (Panhematin)Hereditary Coproporphyria Porphyria Variegata Acute intermittent porphyria AIP Symptoms · 1984-03-16

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Olanzapine · therapeutic

Pathways: Porphyrin and chlorophyll metabolism; Metabolic pathways; Metabolism; Metabolism of porphyrins; Heme biosynthesis

MyDisease.info · MONDO:0007369

Literature

Is anyone studying this?

1,629

1,629 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.

1,629 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).

967 in the last 10 years · high confidence · 87.2th percentile (publications denominator)

Phrase hits: 693 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bonkovsky 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
  2. 02
    Wang B9 papers · 2026

    Division of Gastroenterology, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, United States.

    Papers in Europe PMC
  3. 03
    Aucella F8 papers · 2024

    Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

    Papers in Europe PMC
  4. 04
    Ventura 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
  5. 05
    Balwani M7 papers · 2025

    Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

    Papers in Europe PMC
  6. 06
    Anderson KE6 papers · 2025

    Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston.

    Papers in Europe PMC
  7. 07
    Edel Y6 papers · 2023

    National Service for the Biochemical Diagnoses of Porphyrias, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

    Papers in Europe PMC
  8. 08
    Gouya 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
  9. 09
    Guida 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
  10. 10
    Stölzel 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th 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.

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 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 Hereditary coproporphyria — 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.

("Hereditary coproporphyria" OR "coproporphyrinogen oxidase deficiency") OR (MESH:"Coproporphyria, Hereditary") OR ("CPOX" OR "CPOX syndrome" OR "CPOX-related")

Run this search on Europe PMC

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"

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; 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