ORPHA:100026
Gamma-heavy chain disease
Also known as: Franklin disease · Gamma-HCD
Publications
215
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
985
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
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:0015046
- UMLS:C0018854
- NCIT:C3083
Additional Mondo synonyms (3)
Franklin's disease · gamma heavy chain disease · gamma-HCD
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
215 matched papers (44 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?
215
215 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.
215 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).
44 in the last 10 years · medium confidence · 51.2th percentile (publications denominator)
Phrase hits: 215 · MeSH hits: 0
Who's working on it?
985
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.
- 01Seligmann M8 papers · 1993
Service d'immuno-hématologie, hôpital Saint-Louis, Paris.
Papers in Europe PMC - 02Franklin EC7 papers · 1982Papers in Europe PMC
- 03Frangione B6 papers · 1992
Department of Medicine, New York University Medical Center, New York, N.Y. 10016
Papers in Europe PMC - 04Alexander A5 papers · 2000
Research Service, New York Veterans Administration Medical Center 10010.
Papers in Europe PMC - 05Danon F5 papers · 1990Papers in Europe PMC
- 06Jaffe ES5 papers · 2022
Hematopathology Section, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. elainejaffe@nih.gov
Papers in Europe PMC - 07Buxbaum J4 papers · 2000Papers in Europe PMC
- 08Creyssel R4 papers · 1985Papers in Europe PMC
- 09Kanoh T4 papers · 1995
Department of Internal Medicine, Faculty of Medicine, Kyoto University, Japan.
Papers in Europe PMC - 10Kyle RA4 papers · 2010
Departments of Medicine and Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, Minnesota (Kyle), and the Baylor Heart and Vascular Institute, Baylor University Medical Center at Dallas (Roberts).
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.
medium 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.
Broader category heavy chain disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: heavy chain disease
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. 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.
"Gamma-heavy chain disease" OR "Franklin disease" OR "Gamma-HCD" OR "Franklin's disease" OR "gamma heavy chain disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Gamma-heavy chain disease" OR "Franklin disease" OR "Gamma-HCD" OR "Franklin's disease" OR "gamma heavy chain disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"heavy chain disease"
Query health: ok — strategies attempted: phrase; 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
- Publication count (215) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T06:55:04.637Z