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ORPHA:450

Visceral heterotaxy

high confidenceDisorder

Also known as: Heterotaxy · Heterotaxy syndrome

Publications

8,981

94.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,047

Distinct authors in sample

Gene link

BCL9L, CFAP52, CIROP

Strong

Readiness

4/6

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).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — BCL9L, CFAP52, CIROP, CIROZ, DAW1…

  2. LiteraturePresent

    8,981 matched papers (5,446 in last 10 years) Source

  3. Phenotype characterisedPresent

    345 HPO annotations (e.g. Dextrocardia; Abnormal heart morphology; Abnormal EKG) Source

  4. Animal modelPresent

    200 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

345

Associated phenotypes · MONDO:0018677

  • Dextrocardia
  • Abnormal heart morphology
  • Abnormal EKG
  • T-wave inversion
  • Situs inversus totalis

Showing 5 of 345 — open Monarch for the full list.

Animal models (Monarch / Alliance)

200

Model associations linked to this Mondo ID

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?

8,981

8,981 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.

8,981 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).

5,446 in the last 10 years · high confidence · 94.9th percentile (publications denominator)

Phrase hits: 8,131 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Fares 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
  2. 02
    Wang 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
  3. 03
    Wu 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
  4. 04
    Yang W4 papers · 2026

    Department of Medical Imaging, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Chen SJ3 papers · 2025

    Department of Radiology, National Taiwan University Hospital and Medical College, National Taiwan University, Taipei, Taiwan.

    Papers in Europe PMC
  6. 06
    d'Udekem Y3 papers · 2025

    Division of Cardiac Surgery, Children's National Hospital, The George Washington University, Washington, DC.

    Papers in Europe PMC
  7. 07
    Greil 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
  8. 08
    Gu 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
  9. 09
    Guo Z3 papers · 2026

    Respirology Department, Children's Hospital of Fudan University, 201102, Shanghai, China.

    Papers in Europe PMC
  10. 10
    He 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Visceral heterotaxy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("BCL9L" OR "BCL9L syndrome" OR "BCL9L-related" OR "CFAP52" OR "CFAP52 syndrome" OR "CFAP52-related" OR "CIROP" OR "CIROP syndrome" OR "CIROP-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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