ORPHA:3320
Thrombocytopenia-absent radius syndrome
Also known as: TAR syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
697
86.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,298
Distinct authors in sample
Gene link
RBM8A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010121
- MeSH:C536940
- OMIM:274000
- UMLS:C0175703
- NCIT:C99038
Additional Mondo synonyms (4)
1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome · Thrombocytopenia Absent Radius Syndrome · radial aplasia-thrombocytopenia syndrome · thrombocytopenia-absent radius syndrome
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — RBM8A
- LiteraturePresent
697 matched papers (346 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (RBM8A).
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?
697
697 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.
697 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).
346 in the last 10 years · high confidence · 86.5th percentile (publications denominator)
Phrase hits: 697 · MeSH hits: 0
Who's working on it?
1,298
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Zhang J7 papers · 2026
Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China.
Papers in Europe PMC - 02Wang Y5 papers · 2026
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
Papers in Europe PMC - 03Liu X4 papers · 2026
Heart Center, The First Hospital of Tsinghua University, Beijing, 100016, China.
Papers in Europe PMC - 04Burger A3 papers · 2025
University of Colorado School of Medicine, Anschutz Medical Campus, Department of Pediatrics, Section of Developmental Biology, Aurora, CO 80045, USA.
Papers in Europe PMC - 05Giordano P3 papers · 2016
Department of Biomedicine in Childhood, University of Bari, Piazza Giulio Cesare, Bari, Italy.
Papers in Europe PMC - 06Klopocki E3 papers · 2023
Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 07Kocere A3 papers · 2025
University of Colorado School of Medicine, Anschutz Medical Campus, Department of Pediatrics, Section of Developmental Biology, Aurora, CO 80045, USA.
Papers in Europe PMC - 08Li S3 papers · 2024
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
Papers in Europe PMC - 09Mao Y3 papers · 2026
Department of Biology, Pennsylvania State University, University Park, PA 16802, USA.
Papers in Europe PMC - 10Mosimann C3 papers · 2025
University of Colorado School of Medicine, Anschutz Medical Campus, Department of Pediatrics, Section of Developmental Biology, Aurora, CO 80045, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Thrombocytopenia-absent radius syndrome" OR "TAR syndrome" OR "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" OR "Thrombocytopenia Absent Radius Syndrome" OR "radial aplasia-thrombocytopenia syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Thrombocytopenia-absent radius syndrome" OR "TAR syndrome" OR "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" OR "Thrombocytopenia Absent Radius Syndrome" OR "radial aplasia-thrombocytopenia syndrome" OR "RBM8A"
Recall-expansion terms: RBM8A
Study-type breakdown: 0 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
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 2026-07-26T22:51:59.127Z