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ORPHA:101063

Situs inversus totalis

high confidenceDisorder

Also known as: Complete situs inversus · Complete situs inversus viscerum · Situs inversus

Publications

8,806

96.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,039

Distinct authors in sample

Gene link

NME7

Limited

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis characterized by complete mirror-imaged arrangement of the internal organs across the left-right axis of the body. Primary ciliary dyskinesia, Kartagener type, is frequently associated. heart disease are present in 43% of cases, which is less frequent than in patients with heterotaxy. Similarly, extracardiac and vascular anomalies can be associated (e.g. intestinal malrotation, spleen anomalies, absence of retrohepatic inferior vena cava, bilateral superior vena cava), but less frequently that in heterotaxy.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

complete situs inversus · complete situs inversus viscerum · complete transposition (morphologic abnormality) · situs inversus · situs inversus totalis · situs inversus totalis (disease)

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.

  1. Gene identifiedPresent

    Limited — NME7

  2. LiteraturePresent

    8,806 matched papers (3,753 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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?

Possibly — only limited evidence so far for NME7.

GenCC classification: Limited.

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?

8,806

8,806 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.

8,806 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).

3,753 in the last 10 years · high confidence · 96.9th percentile (publications denominator)

Phrase hits: 8,806 · MeSH hits: 287

Open Europe PMC search

Who's working on it?

1,039

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
    Chen J4 papers · 2026

    Second Department of Gastrointestinal Surgery, Hepatobiliary, Pancreatic and Intestinal Diseases Research Institute,The Affiliated Hospital of North Sichuan Medical College, National Clinical Key Specialty (General Surgery), Sub-center of National Clinical Research Center for Digestive Diseases, Sichuan Clinical Research Center for Digestive Diseases, Nanchong, Sichuan, China.

    Papers in Europe PMC
  2. 02
    Chen X4 papers · 2026

    Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, No. 7 Weiwu Road, Zhengzhou City, Henan Province, China.

    Papers in Europe PMC
  3. 03
    Liu X4 papers · 2026

    Third Department of Respiratory, Hebei Children's Hospital, Shijiazhuang, China.

    Papers in Europe PMC
  4. 04
    Vingerhoets G4 papers · 2026

    Department of Experimental Psychology, Ghent University, Ghent, Belgium. Electronic address: guy.vingerhoets@ugent.be.

    Papers in Europe PMC
  5. 05
    Zhang J4 papers · 2025

    Third Department of Respiratory, Hebei Children's Hospital, Shijiazhuang, China.

    Papers in Europe PMC
  6. 06
    Dong X3 papers · 2026

    Prenatal Diagnosis Center, Zhongshan Boai Hospital, Zhongshan, Guangdong, China.

    Papers in Europe PMC
  7. 07
    Guo Z3 papers · 2026

    Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, 450000, China. zhenglongguo@zzu.edu.cn.

    Papers in Europe PMC
  8. 08
    Li H3 papers · 2026

    Prenatal Diagnosis Center, Zhongshan Boai Hospital, Zhongshan, Guangdong, China.

    Papers in Europe PMC
  9. 09
    Li Z3 papers · 2026

    Department of General Surgery & Research Institute of General Surgery, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  10. 10
    Wang Y3 papers · 2026

    Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 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. 1 observational study 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

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Situs inversus totalis" OR "Complete situs inversus" OR "Complete situs inversus viscerum" OR "Situs inversus" OR "complete transposition (morphologic abnormality)" OR "situs inversus totalis (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Situs Inversus

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Situs inversus totalis" OR "Complete situs inversus" OR "Complete situs inversus viscerum" OR "Situs inversus" OR "complete transposition (morphologic abnormality)" OR "situs inversus totalis (disease)" OR "NME7"

Recall-expansion terms: NME7

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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 2026-07-27T07:15:10.613Z