Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (786 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the stomach and spleen are on the left, liver on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Inversus, Situs; Situs Inversus Viscerum.
Where it fits in the MeSH classification
- Broader topics
- Congenital Abnormalities
- Narrower topics
- Dextrocardia; Levocardia
Related concepts
Research landscape
PubMed indexes 5,464 records tagged with the MeSH heading “Situs Inversus” (counts retrieved 2026-10-29). 780 of them (14.3%) were published from 2020 onward, and the busiest period so far is through 1999 with 2,510 records.
Reviews account for 446 records (8.2%) and meta-analyses for 8. Randomized controlled trials number 9 (0.2%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 2,510 |
| 2000-2009 | 895 |
| 2010-2019 | 1,279 |
| 2020 onward | 780 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 446 | 8.2% |
| Meta-analyses | 8 | 0.1% |
| Randomized controlled trials | 9 | 0.2% |
Method: PubMed query "Situs Inversus"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 | 2017 | Research article Design not recorded in structured metadata | 123 | cc by PMID 28176794 · DOI · PMC5309803 |
| CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module | 2020 | Research article Design not recorded in structured metadata | 59 | cc by PMID 33139725 · DOI · PMC7606486 |
| The patient's experience of primary ciliary dyskinesia: a systematic review | 2017 | Systematic review Design not recorded in structured metadata | 47 | cc by PMID 28361274 · DOI · PMC5548843 |
| Function and Structure Relationships With Inflammation Differ in Two Chronic Suppurative Lung Diseases | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42101371 · DOI · PMC13155176 |
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 [1]
Abstract reading summary — source excerpts
- Opening excerpt
- By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid.
- Closing excerpt
- We propose that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (148 words)
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2-DNAAF4-HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-linked form of PCD causing disruption of early axonemal dynein assembly. We propose that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28176794 · DOI · PMC5309803
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis.
- Closing excerpt
- We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (151 words)
Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45-/- mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 33139725 · DOI · PMC7606486
The patient's experience of primary ciliary dyskinesia: a systematic review [3]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth.
- Closing excerpt
- More research is needed on the psychosocial impact of the illness, disease burden and its effect on quality of life.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (313 words)
BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order to understand the experiences of patients with primary ciliary dyskinesia (PCD) and the impact on health-related quality of life.MethodMEDLINE, EBSCO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO and EMBASE were searched according to the inclusion criteria. A qualitative analysis of 14 studies was conducted.ResultsFourteen studies were included in the review, five with qualitative methodologies. Studies originated from the UK, USA, Italy, Denmark and Belgium, one study included a survey distributed internationally. Significant relationships were found between age and worsening of respiratory symptoms, physical, and mental domains of health-related quality of life, with a greater decline compared with reference populations. Variations between the UK and Italy were found for health-related quality of life and its correlation with time since diagnosis. PCD was found to have a physical impact in all age groups: patients found it difficult to keep up with others, and found energy levels were easily depleted compared to family or peers. In terms of social impact, symptoms lead to embarrassment and a sense of isolation, with patients concealing symptoms and/or their diagnosis. In turn, isolation was also linked with the lack of public and medical knowledge. In relation to emotional impact, anxiety was reported in a number of qualitative studies; patients were anxious about getting sick or when thinking about their future health. The burden of treatment and factors influencing adherence were also discussed in depth.ConclusionHealth-related quality of life decreases with age in patients with PCD. For all age groups, PCD was found to greatly impact physical, emotional, social functioning, and treatment burden. More research is needed on the psychosocial impact of the illness, disease burden and its effect on quality of life.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28361274 · DOI · PMC5548843
Function and Structure Relationships With Inflammation Differ in Two Chronic Suppurative Lung Diseases [4]
Abstract reading summary — source excerpts
- Opening excerpt
- RationaleCystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are characterized by neutrophilic airway inflammation but differ in clinical features.
- Closing excerpt
- This paradox merits further research but challenges whether sputum IL-6 in CF is always a bad prognostic indicator.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (174 words)
RationaleCystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are characterized by neutrophilic airway inflammation but differ in clinical features.ObjectivesWe investigated relationships of pulmonary and systemic inflammatory markers with functional and structural lung disease.MethodsSystemic (CRP, IgG, IL-6, and IL-8) and sputum (calprotectin, IL-6, and IL-8) markers were measured at baseline. Relationships were explored with spirometry, lung clearance index and lung computed tomography (CT) scores at baseline and with spirometry 10 years later.Results42 patients (21 CF, 21 PCD) of similar age (median CF 27 y [12-59], PCD 27 y [11-62]) and lung function (median ppFEV1CF 59% [40-99], PCD 67% [30-101]) were enrolled in 2009. Systemic inflammation was significantly higher in CF (Neutrophils, p ConclusionThis study emphasizes the differences of functional and structural aspects in both diseases. Markers that predict long-term outcome in PCD and in CF were identified. The most striking and unanticipated finding was that sputum IL-6 correlated with better CT scores and lung function in CF. This paradox merits further research but challenges whether sputum IL-6 in CF is always a bad prognostic indicator.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42101371 · DOI · PMC13155176
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia [5]
- Research article Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline [6]
- Research article Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease [7]
- Research article Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children [8]
- Research article Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review [9]
- Research article Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome [10]
References
- Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, et al.. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. . 2017. PMID 28176794 · DOI · PMC5309803
- Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, et al.. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. . 2020. PMID 33139725 · DOI · PMC7606486
- Behan L, Rubbo B, Lucas JS, Dunn Galvin A. The patient's experience of primary ciliary dyskinesia: a systematic review. . 2017. PMID 28361274 · DOI · PMC5548843
- Fuchs T, Donovan J, Ives A, Irving S, Davies G, Hogg C, et al.. Function and Structure Relationships With Inflammation Differ in Two Chronic Suppurative Lung Diseases. . 2026. PMID 42101371 · DOI · PMC13155176
- Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al.. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017. PMID 27836958 · DOI · PMC6054534
- Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al.. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018. PMID 29905515 · DOI · PMC6006411
- Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013. PMID 23796196 · DOI · PMC3826280
- Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, et al.. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009. PMID 19948909 · DOI
- Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, et al.. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016. PMID 26418604 · DOI · PMC4912005
- Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, et al.. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009. PMID 19606528 · DOI · PMC3739704
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.