ORPHA:443062
Familial porphyria cutanea tarda
Also known as: Porphyria cutanea tarda type II
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
115
36.4th percentile
Trials
0
Interventional, condition-specific
Researchers
674
Distinct authors in sample
Gene link
UROD
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008296
- OMIM:176100
- UMLS:C0268323
Additional Mondo synonyms (3)
hereditary porphyria cutanea tarda · porphyria cutanea tarda type II · porphyria cutanea tarda, susceptibility to
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — UROD
- LiteraturePresent
115 matched papers (19 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 trialPartial
None under the specific name; 4 for broader category porphyria cutanea tarda
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 (UROD).
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?
115
115 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
115 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).
19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)
Phrase hits: 115 · MeSH hits: 0
Who's working on it?
674
Distinct author names in 115 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Kushner JP10 papers · 2009Papers in Europe PMC
- 02
- 03de Verneuil H7 papers · 2002
Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
Papers in Europe PMC - 04Elder GH7 papers · 2005Papers in Europe PMC
- 05Farrar G7 papers · 2020
Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, 123 St Stephen’s Green, Dublin, Ireland
Papers in Europe PMC - 06Phillips JD7 papers · 2016
Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. john.phillips@hsc.utah.edu
Papers in Europe PMC - 07Treacy E7 papers · 2020
Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, 123 St Stephen’s Green, Dublin, Ireland
Papers in Europe PMC - 08Herrero C6 papers · 2011Papers in Europe PMC
- 09Nordmann Y6 papers · 1998Papers in Europe PMC
- 10Cavalleri G5 papers · 2020
Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, 123 St Stephen’s Green, Dublin, Ireland
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for porphyria cutanea tarda, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched porphyria cutanea tarda, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: porphyria cutanea tarda
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Familial porphyria cutanea tarda" OR "Porphyria cutanea tarda type II" OR "hereditary porphyria cutanea tarda" OR "porphyria cutanea tarda, susceptibility to"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial porphyria cutanea tarda" OR "Porphyria cutanea tarda type II" OR "hereditary porphyria cutanea tarda" OR "porphyria cutanea tarda, susceptibility to" OR "UROD" OR "UROD-related inherited porphyria"
Recall-expansion terms: UROD, UROD-related inherited porphyria
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"porphyria cutanea tarda"
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T16:23:43.650Z