ORPHA:450
Visceral heterotaxy
Also known as: Heterotaxy · Heterotaxy syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8,131
97.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,047
Distinct authors in sample
Gene link
BCL9L, CFAP52, CIROP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by abnormal arrangement of the thoraco-abdominal organs across the left-right axis of the body. By definition, it does not include situs inversus totalis (total mirror-imagery).
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018677
- UMLS:C3178805
- NCIT:C117273
Additional Mondo synonyms (10)
heterotaxia · heterotaxia syndrome · heterotaxy syndrome · heterotaxy, visceral · incomplete situs inversus · lateralization defect · partial situs inversus · situs ambiguous · situs ambiguus · visceral heterotaxy
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
Strong — BCL9L, CFAP52, CIROP, CIROZ, DAW1…
- LiteraturePresent
8,131 matched papers (4,760 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 (BCL9L, CFAP52, CIROP…).
GenCC classification: Strong.
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?
8,131
8,131 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=5449) is 41.
8,131 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).
4,760 in the last 10 years · high confidence · 97.5th percentile (publications denominator)
Phrase hits: 8,131 · MeSH hits: 0
Who's working on it?
1,047
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.
- 01Fares M5 papers · 2026
Heart Center, Children's Health, Division of Cardiology, Department of Pediatrics, UT Southwestern Medical Center, 1935 Medical District Dr, Dallas, TX, 75235, USA.
Papers in Europe PMC - 02Wang Y4 papers · 2026
Medical Imaging Center, The First People's Hospital of Kashi, 120 Yingbin Avenue, Kashi City, 844000, Xinjiang, PR China.
Papers in Europe PMC - 03Wu Q4 papers · 2026
Department of Medical Ultrasonics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Papers in Europe PMC - 04Yang W4 papers · 2026
Department of Medical Imaging, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
Papers in Europe PMC - 05Chen SJ3 papers · 2025
Department of Radiology, National Taiwan University Hospital and Medical College, National Taiwan University, Taipei, Taiwan.
Papers in Europe PMC - 06d'Udekem Y3 papers · 2025
Division of Cardiac Surgery, Children's National Hospital, The George Washington University, Washington, DC.
Papers in Europe PMC - 07Greil G3 papers · 2026
Division of Cardiology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA; Department of Radiology, UT Southwestern Medical Center, Dallas, Texas, USA; Advanced Imaging Research Center, UT Southwestern Medical Center, Dallas, Texas, USA.
Papers in Europe PMC - 08Gu H3 papers · 2026
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.
Papers in Europe PMC - 09Guo Z3 papers · 2026
Respirology Department, Children's Hospital of Fudan University, 201102, Shanghai, China.
Papers in Europe PMC - 10He Y3 papers · 2026
Department of Medical Imaging, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
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. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
5 observational studies match 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
- NCT02432079·RECRUITING·Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Conditions: Heterotaxy Syndrome · Congenital Heart Defects·Matched via name phrase
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.
"Visceral heterotaxy" OR "Heterotaxy" OR "Heterotaxy syndrome" OR "heterotaxia" OR "heterotaxia syndrome" OR "heterotaxy, visceral" OR "incomplete situs inversus" OR "lateralization defect" OR "partial situs inversus" OR "situs ambiguous" OR "situs ambiguus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Visceral heterotaxy" OR "Heterotaxy" OR "Heterotaxy syndrome" OR "heterotaxia" OR "heterotaxia syndrome" OR "heterotaxy, visceral" OR "incomplete situs inversus" OR "lateralization defect" OR "partial situs inversus" OR "situs ambiguous" OR "situs ambiguus" OR "BCL9L" OR "CFAP52" OR "CIROP" OR "CIROZ" OR "DAW1" OR "LEFTY2"
Recall-expansion terms: BCL9L, CFAP52, CIROP, CIROZ, DAW1, LEFTY2
Study-type breakdown: 0 interventional · 5 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 2026-07-26T13:52:39.835Z