ORPHA:79230
HJV or HAMP-related hemochromatosis
Also known as: Hemochromatosis type 2 · Juvenile hemochromatosis
Publications
555
Trials
0
Interventional, condition-specific
Researchers
934
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by and hypogonadism.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019257
- MeSH:C537247
- UMLS:C0268060
Additional Mondo synonyms (2)
Juvenile Hemochromatosis · juvenile hemochromatosis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
555 matched papers (183 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
555
555 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.
555 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).
183 in the last 10 years · low confidence
Phrase hits: 555 · MeSH hits: 3
Who's working on it?
934
Distinct author names in 200 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.
- 01Brissot P9 papers · 2022
University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University of Rennes1, Inserm UMR 991, 35000 Rennes, France; University Hospital of Rennes, Liver disease department, Rennes, France.
Papers in Europe PMC - 02Pantopoulos K9 papers · 2025
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Papers in Europe PMC - 03Camaschella C7 papers · 2015
Vita-Salute University and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy. camaschella.clara@hsr.it
Papers in Europe PMC - 04Enns CA6 papers · 2026
Department of Cell and Developmental Biology, Oregon Health and Science University Portland, OR, USA.
Papers in Europe PMC - 05Fillebeen C6 papers · 2025
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Papers in Europe PMC - 06FRANCHINI PATRICK6 papers · 2010Papers in Europe PMC
- 07KAMBOJ RAJENDER K6 papers · 2011Papers in Europe PMC
- 08GOLDBERG YIGAL P5 papers · 2011Papers in Europe PMC
- 09GOLDBERG YIGAL PAUL5 papers · 2010Papers in Europe PMC
- 10Papanikolaou G5 papers · 2011
First Department of Internal Medicine, National and Kapodistrian University of Athens, School of Medicine, Laikon General Hospital, Athens 11527, Greece.
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).
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"HJV or HAMP-related hemochromatosis" OR "Hemochromatosis type 2" OR "Juvenile hemochromatosis"
MeSH descriptor terms unioned into the query: Hemochromatosis, type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"HJV or HAMP-related hemochromatosis" OR "Hemochromatosis type 2" OR "Juvenile hemochromatosis" OR "Hemochromatosis, type 2"
Study-type breakdown: 0 interventional · 0 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 (555) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:05:40.034Z