ORPHA:2886
TARP syndrome
Also known as: Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome · Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
109
64.7th percentile
Trials
—
Interventional, condition-specific
Researchers
769
Distinct authors in sample
Gene link
RBM10
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The is variable, some patients present with further characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
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:0010711
- MeSH:C536942
- OMIM:311900
- UMLS:C1839463
Additional Mondo synonyms (3)
TARP syndrome, X-linked recessive · talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome · tarp 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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — RBM10
- LiteraturePresent
109 matched papers (90 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 checked
Trial fetch failed or incomplete
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 (RBM10).
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?
109
109 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.
109 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).
90 in the last 10 years · medium confidence · 64.7th percentile (publications denominator)
Phrase hits: 109 · MeSH hits: 0
Who's working on it?
769
Distinct author names in 109 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.
- 01Wang Y9 papers · 2024
Department of Cellular and Genetic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China. Electronic address: wangyongbo@fudan.edu.cn.
Papers in Europe PMC - 02Biesecker LG6 papers · 2024
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. leslieb@helix.nih.gov
Papers in Europe PMC - 03Chen W5 papers · 2022
Department of Biology, Southern University of Science and Technology, Shenzhen 518055, China.
Papers in Europe PMC - 04Loiselle JJ4 papers · 2018
Biomolecular Sciences Program, Laurentian University, Sudbury, Ontario, Canada.
Papers in Europe PMC - 05
- 06Sutherland LC4 papers · 2018
Biomolecular Sciences Program, Laurentian University, Sudbury, Ontario, Canada.
Papers in Europe PMC - 07Abdel-Wahab O3 papers · 2025
Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address: abdelwao@mskcc.org.
Papers in Europe PMC - 08Huang J3 papers · 2025
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 09Inoue A3 papers · 2021
Department of Immunology, Graduate School of Medicine, Osaka City University, Osaka 545-8585, Japan.
Papers in Europe PMC - 10Johnston JJ3 papers · 2014
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
medium confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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.
"TARP syndrome" OR "Pierre Robin sequence-congenital heart defect-talipes syndrome" OR "Pierre Robin syndrome-congenital heart defect-talipes syndrome" OR "Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" OR "Talipes equinovarus-atrial septal defect-Robin sequence-persistence of left superior vena cava syndrome" OR "TARP syndrome, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: RBM10
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22TARP%20syndrome%22%20OR%20%22Pierre%20Robin%20sequence-congenital%20heart%20defect-talipes%20syndrome%22%20OR%20%22Pierre%20Robin%20syndrome-congenital%20heart%20defect-talipes%20syndrome%22%20OR%20%22Talipes%20equinovarus-atrial%20septal%20defect-Robin%20sequence-persistence%20of%20the%20left%20superior%20vena%20cava%20syndrome%22%20OR%20%22Talipes%20equinovarus-atrial%20septal%20defect-Robin%20sequence-persistence%20of%20left%20superior%20vena%20cava%20syndrome%22%20OR%20%22TARP%20syndrome%2C%20X-linked%20recessive%22%20OR%20%22RBM10%22&format=json&pageSize=100&countTotal=true — Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22TARP%20syndrome%22%20OR%20%22Pierre%20Robin%20sequence-congenital%20heart%20defect-talipes%20syndrome%22%20OR%20%22Pierre%20Robin%20syndrome-congenital%20heart%20defect-talipes%20syndrome%22%20OR%20%22Talipes%20equinovarus-atrial%20septal%20defect-Robin%20sequence-persistence%20of%20the%20left%20superior%20vena%20cava%20syndrome%22%20OR%20%22Talipes%20equinovarus-atrial%20septal%20defect-Robin%20sequence-persistence%20of%20left%20superior%20vena%20cava%20syndrome%22%20OR%20%22TARP%20syndrome%2C%20X-linked%20recessive%22%20OR%20%22RBM10%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:33:52.586Z