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ORPHA:101063

Situs inversus totalis

high confidenceDisorder

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

Publications

9,228

93.8th 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

    9,228 matched papers (4,058 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Possibly — only limited evidence so far for NME7.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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)

2 associated chemicals · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Lidocaine · marker/mechanism
  • Warfarin · marker/mechanism

Pathways: Cytokine-cytokine receptor interaction; TGF-beta signaling pathway; Signaling pathways regulating pluripotency of stem cells; Fluid shear stress and atherosclerosis; BMP signaling; Activin signaling; Signaling by NODAL; Developmental Biology

MyDisease.info · MONDO:0010029

Literature

Is anyone studying this?

9,228

9,228 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.

9,228 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).

4,058 in the last 10 years · high confidence · 93.8th 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 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

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

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 2026-07-30

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 Situs inversus totalis — 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.

("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 (MESH:"Situs Inversus") OR ("NME7" OR "NME7 syndrome" OR "NME7-related")

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)"

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

Query health: ok — strategies attempted: phrase, mesh; 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