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ORPHA:3319

Congenital amegakaryocytic thrombocytopenia

medium confidenceDisorder

Also known as: CAMT

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

503

83.5th percentile

Trials

6

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

MPL

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

CAMT1 · amegakaryocytic thrombocytopenia, congenital 1 · thrombocytopenia, congenital amegakaryocytic

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MPL

  2. LiteraturePresent

    503 matched papers (275 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

    6 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?

Yes — we know a specific gene responsible (MPL).

GenCC classification: Definitive.

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?

503

503 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.

503 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).

275 in the last 10 years · medium confidence · 83.5th percentile (publications denominator)

Phrase hits: 503 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,225

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
    Ballmaier M5 papers · 2021

    Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  2. 02
    Germeshausen M5 papers · 2021

    Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  3. 03
    Locatelli F4 papers · 2025

    2Dipartimento di Onco-Ematologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Roma, Università di Pavia, Pavia, Italy.

    Papers in Europe PMC
  4. 04
    Sankaran VG4 papers · 2023

    Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA USA.

    Papers in Europe PMC
  5. 05
    Savoia A4 papers · 2023

    Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy anna.savoia@burlo.trieste.it.

    Papers in Europe PMC
  6. 06
    Zhang Y4 papers · 2025

    Key Laboratory of Zebrafish Modeling and Drug Screening for Human Diseases of Guangdong Higher Education Institutes, Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Balduini CL3 papers · 2023

    Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  8. 08
    Boulad F3 papers · 2022

    b Bone Marrow Transplant Service, Department of Pediatrics , Memorial Sloan Kettering Cancer Center , New York , New York , USA.

    Papers in Europe PMC
  9. 09
    Corey SJ3 papers · 2023

    Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Children's Hospital of Richmond and Massey Cancer Center, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

    Papers in Europe PMC
  10. 10
    Faleschini M3 papers · 2023

    Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

medium confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 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.

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.

"Congenital amegakaryocytic thrombocytopenia" OR "CAMT1" OR "amegakaryocytic thrombocytopenia, congenital 1" OR "thrombocytopenia, congenital amegakaryocytic"

Run this search on Europe PMC

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

"Congenital amegakaryocytic thrombocytopenia" OR "CAMT1" OR "amegakaryocytic thrombocytopenia, congenital 1" OR "thrombocytopenia, congenital amegakaryocytic" OR "MPL"

Recall-expansion terms: MPL

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: 6 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CAMT

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 2026-07-26T22:51:37.551Z