ORPHA:2585
Ataxia-pancytopenia syndrome
Also known as: ATXPC syndrome · Myelocerebellar disorder · SAMD9L-related ataxia-pancytopenia syndrome
Publications
132
70.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,042
Distinct authors in sample
Gene link
SAMD9L
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by cerebellar , cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly cerebellar or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008038
- MeSH:C563233
- OMIM:159550
- UMLS:C1327919
- NCIT:C176909
Additional Mondo synonyms (2)
ataxia-pancytopenia syndrome · myelocerebellar disorder
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.
- Gene identifiedPresent
Definitive — SAMD9L
- LiteraturePresent
132 matched papers (124 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?
Yes — we know a specific gene responsible (SAMD9L).
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?
132
132 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.
132 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).
124 in the last 10 years · high confidence · 70.1th percentile (publications denominator)
Phrase hits: 132 · MeSH hits: 0
Who's working on it?
1,042
Distinct author names in 132 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.
- 01Wlodarski MW7 papers · 2025
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA. marcin.wlodarski@stjude.org.
Papers in Europe PMC - 02Klco JM6 papers · 2025
Department of Pathology and the Hematological Malignancies Program, St. Jude Children's Research Hospital, Memphis, TN, USA. jeffery.klco@stjude.org.
Papers in Europe PMC - 03Shimamura A6 papers · 2022
Boston Children's Hospital, Dana Farber Cancer Institute, and Harvard Medical School, MA, USA.
Papers in Europe PMC - 04Erlacher M5 papers · 2025
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 05Godley LA5 papers · 2024
Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.
Papers in Europe PMC - 06Nichols KE5 papers · 2025
Department of Oncology, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 260, Memphis, TN, 38105, USA.
Papers in Europe PMC - 07Calvo KR4 papers · 2023
Department of Laboratory Medicine (DLM), Clinical Center/NIH, Bethesda, Maryland, USA.
Papers in Europe PMC - 08Cammenga J4 papers · 2024
Division of Molecular Hematology, Institution for Laboratory Medicine, Lund University, Lund, Sweden.
Papers in Europe PMC - 09Ma J4 papers · 2021
Department of Pathology, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 342, Memphis, TN, 38105, USA.
Papers in Europe PMC - 10McReynolds LJ4 papers · 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
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).
high 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.
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.
"Ataxia-pancytopenia syndrome" OR "ATXPC syndrome" OR "Myelocerebellar disorder" OR "SAMD9L-related ataxia-pancytopenia syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ataxia-pancytopenia syndrome" OR "ATXPC syndrome" OR "Myelocerebellar disorder" OR "SAMD9L-related ataxia-pancytopenia syndrome" OR "SAMD9L"
Recall-expansion terms: SAMD9L
Interventional trials matched via: recall-expansion (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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T20:36:47.524Z