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ORPHA:29073

Multiple myeloma

high confidenceDisorder

Also known as: Kahler disease · Medullary plasmacytoma · Myelomatosis · Plasma cell myeloma

Publications

215,498

99.9th percentile

Trials

3,273

Interventional, condition-specific

Researchers

1,226

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

Kahler's disease · Multiple Myeloma · medullary plasmacytoma · multiple myeloma · multiple myeloma, resistance to, Somatic mutation · multiple myeloma, susceptibility to, Somatic mutation · multiple myeloma/plasma cell myeloma · myeloid neoplasm of plasma cell · myeloma · myeloma, multiple · myeloma, plasma cell, malignant · myelomatosis · plasma cell myeloid neoplasm · plasma cell myeloma

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    215,498 matched papers (110,371 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3,273 matched on ClinicalTrials.gov (569 recruiting in sample)

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?

215,498

215,498 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

215,498 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).

110,371 in the last 10 years · high confidence · 99.9th percentile (publications denominator)

Phrase hits: 215,498 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,226

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
    Zhang Y9 papers · 2026

    Department of Hematology, The First Affiliated Hospital of Xi'an Jiaotong University, No.277 Yanta West Road, Xi'an, 710061, Shaanxi, PR China.

    Papers in Europe PMC
  2. 02
    Kumar S6 papers · 2026

    Narayan Institute of Pharmacy, Gopal Narayan Singh University, Jamuhar, Sasaram, Rohtas- 821305, Bihar, India.

    Papers in Europe PMC
  3. 03
    Li J6 papers · 2026

    Department of Hematology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.

    Papers in Europe PMC
  4. 04
    Liu L5 papers · 2026

    Department of Hematology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.

    Papers in Europe PMC
  5. 05
    Chen Y4 papers · 2026

    College of Chemistry and Chemical Engineering, Taiyuan University of Technology, Taiyuan, China.

    Papers in Europe PMC
  6. 06
    Einsele H4 papers · 2026

    Department of Internal Medicine II, University Hospital Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  7. 07
    Lin Y4 papers · 2026

    Department of Laboratory Medicine, Fengdu County Traditional Chinese Medicine Hospital , ,

    Papers in Europe PMC
  8. 08
    Liu J4 papers · 2026

    Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2026

    College of Artificial Intelligence, Ningbo University of Finance and Economics, Ningbo, Zhejiang, China.

    Papers in Europe PMC
  10. 10
    Wang M4 papers · 2026

    Department of Hematology, Peking University Shougang Hospital, Beijing, China. wmd202503@163.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3,273

interventional trials for this specific condition

3,273 interventional trials matched this specific condition name; 569 currently recruiting in our sample.

Data as of 27 July 2026

3,273 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 100th percentile).

high confidence · 100th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3,273 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

513 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Multiple myeloma" OR "Kahler disease" OR "Medullary plasmacytoma" OR "Myelomatosis" OR "Plasma cell myeloma" OR "Kahler's disease" OR "multiple myeloma, resistance to, Somatic mutation" OR "multiple myeloma, susceptibility to, Somatic mutation" OR "multiple myeloma/plasma cell myeloma" OR "myeloid neoplasm of plasma cell" OR "myeloid neoplasm of the plasma cell" OR "myeloma" OR "myeloma, multiple" OR "myeloma, plasma cell, malignant" OR "plasma cell myeloid neoplasm"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Multiple myeloma" OR "Kahler disease" OR "Medullary plasmacytoma" OR "Myelomatosis" OR "Plasma cell myeloma" OR "Kahler's disease" OR "multiple myeloma, resistance to, Somatic mutation" OR "multiple myeloma, susceptibility to, Somatic mutation" OR "multiple myeloma/plasma cell myeloma" OR "myeloid neoplasm of plasma cell" OR "myeloid neoplasm of the plasma cell" OR "myeloma" OR "myeloma, multiple" OR "myeloma, plasma cell, malignant" OR "plasma cell myeloid neoplasm"

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: 3273 interventional · 513 observational · 33 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T23:23:57.201Z