ORPHA:93556
Heavy chain deposition disease
Also known as: HCDD
Publications
331
77.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,130
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019728
- UMLS:C1333947
- NCIT:C7339
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
331 matched papers (185 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
1 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?
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?
331
331 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.
331 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).
185 in the last 10 years · medium confidence · 77.5th percentile (publications denominator)
Phrase hits: 331 · MeSH hits: 0
Who's working on it?
1,130
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.
- 01
- 02Bridoux F12 papers · 2024
Department of Nephrology, Centre de référence maladies rares, Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales, Centre Hospitalier Universitaire Poitiers, Université de Poitiers, Poitiers, France.
Papers in Europe PMC - 03Nasr SH10 papers · 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Hilton 10-20, Rochester, MN 55905, USA. nasr.samih@mayo.edu
Papers in Europe PMC - 04Sirac C7 papers · 2024
Joint Research Unit CNRS 7276, INSERM 1262, Centre de référence maladies rares, Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales, Centre Hospitalier Universitaire Limoges, Université de Limoges, Limoges, France.
Papers in Europe PMC - 05
- 06Alexander MP6 papers · 2022
Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. alexander.mariam@mayo.edu
Papers in Europe PMC - 07Goujon JM6 papers · 2023
Department of Pathology, University Hospital of Poitiers, Poitiers, France.
Papers in Europe PMC - 08Javaugue V6 papers · 2021
Centre National de Référence Amylose AL et Autres Maladies par Dépôt d'Immunoglobulines Monoclonales, Centre Hospitalier Universitaire de Limoges, Limoges, France; and Service de Néphrologie et Transplantation.
Papers in Europe PMC - 09Bender S5 papers · 2022
Centre National de la Recherche Scientifique, UMR 7276, Université de Limoges, Limoges, France; Centre National de Référence Amylose AL et Autres Maladies par Dépôt d'Immunoglobulines Monoclonales, Centre Hospitalier Universitaire de Limoges, Limoges, France; and.
Papers in Europe PMC - 10D'Agati VD5 papers · 2023
Department of Pathology, Renal Pathology Laboratory, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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
2 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.
Recruiting or not-yet-recruiting
- NCT03717844·RECRUITING·Registry for Adults With Plasma Cell Disorders (PCD's)
Conditions: Multiple Myeloma · Amyloidosis · Cryoglobulinemia · Castleman's Disease·Matched via name phrase
- NCT05283993·RECRUITING·A Cohort Study of Plasma Cell Disorders (PCDs) in PKUFH
Conditions: Multiple Myeloma · Amyloidosis · Cryoglobulinemia · Castleman's Disease·Matched via name phrase
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.
"Heavy chain deposition disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Heavy chain deposition disease"
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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HCDD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:23:23.899Z