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 — Source fetch failed for trials.
Publications
5,985
Trials
—
Interventional, condition-specific
Researchers
769
Distinct authors in sample
Gene link
RBM10
Definitive
Readiness
3/6
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.”
3/6 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
5,985 matched papers (4,135 in last 10 years) Source
- Phenotype characterisedPresent
100 HPO annotations (e.g. Pectus excavatum; Tetralogy of Fallot; Optic atrophy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
100
Associated phenotypes · MONDO:0010711
- Pectus excavatum
- Tetralogy of Fallot
- Optic atrophy
- Anteverted nares
- Seizure
Showing 5 of 100 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
5,985
5,985 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,985 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).
4,135 in the last 10 years · low confidence
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 11 September 2026 · last trial check 31 July 2026
low 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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).
Uncertain / not reviewed (1)
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 TARP syndrome — check Associations / patient organisations on that page.
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") OR ("RBM10" OR "RBM10 syndrome" OR "RBM10-related" OR "TARP" OR "TARP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TARP syndrome"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Source errors: trials: 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&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
- Publication count (5985) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T21:33:52.586Z