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ORPHA:3319

Congenital amegakaryocytic thrombocytopenia

medium confidenceDisorder

Also known as: CAMT

Publications

524

75.1th percentile

Trials

6

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

MPL

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MPL

  2. LiteraturePresent

    524 matched papers (293 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Cerebellar vermis hypoplasia; Amegakaryocytic thrombocytopenia; Thrombocytopenia) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

16

Associated phenotypes · MONDO:0011469

  • Cerebellar vermis hypoplasia
  • Amegakaryocytic thrombocytopenia
  • Thrombocytopenia
  • Pancytopenia
  • Megakaryocytopenia

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

524

524 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=3967) is 59.

524 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

293 in the last 10 years · medium confidence · 75.1th 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 11 September 2026 · last trial check 28 July 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

medium confidence · 90.1th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Congenital amegakaryocytic thrombocytopenia — check Associations / patient organisations on that page.

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") OR ("MPL syndrome" OR "MPL-related")

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"

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: ok — strategies attempted: phrase; 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