ORPHA:674653
Actinomyopathy-associated syndromic thrombocytopenia
Also known as: ACTB-AST
Is anyone studying this?
13
13 papers have ever been indexed 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=183) is 38.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
13 in the last 10 years · high confidence · 35th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ACTB).
GenCC classification: Strong.
Who's working on it?
146
Distinct author names in 13 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.
- 01Di Donato N3 papers · 2026
Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany. Nataliya.didonato@uniklinikum-dresden.de.
Papers in Europe PMC - 02Manstein DJ3 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Manstein.Dietmar@mh-hannover.de.
Papers in Europe PMC - 03Taft MH3 papers · 2026
Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.
Papers in Europe PMC - 04Greve JN2 papers · 2026
Institute for Biophysical Chemistry and Structural Biochemistry, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Papers in Europe PMC - 05Niehaus I2 papers · 2026
Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
Papers in Europe PMC - 06Rump A2 papers · 2026
Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
Papers in Europe PMC - 07Schrock E2 papers · 2026
Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.
Papers in Europe PMC - 08Alobeid B1 paper · 2024
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
Papers in Europe PMC - 09Ampe C1 paper · 2020
Department of Biomolecular Medicine, Ghent University, Albert Baertsoenkaai 3, B-9000 Ghent, Belgium.
Papers in Europe PMC - 10Aronica E1 paper · 2019
Department of (Neuro-)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 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
1 observational study matches 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
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 below but are not added to the query string.
"Actinomyopathy-associated syndromic thrombocytopenia" OR "ACTB-AST" OR "thrombocytopenia 8, with dysmorphic features and developmental delay"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Actinomyopathy-associated syndromic thrombocytopenia" OR "ACTB-AST" OR "thrombocytopenia 8, with dysmorphic features and developmental delay" OR "ACTB" OR "syndromic constitutional thrombocytopenia" OR "inherited thrombocytopenia"
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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:620475 UMLS:C5882677
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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