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X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.
Features include always present findings: Hypoplastic left heart and Total anomalous pulmonary venous return; and very common findings: Abdominal situs inversus and Ventricular septal defect. 53 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 10 | Right atrial isomerism, Hypoplastic aortic arch, Hypoplastic left heart |
Kidneys and urinary system | 3 | Horseshoe kidney, Enlarged kidney, Renal agenesis |
Digestive system | 3 | Abdominal situs inversus, Enlarged liver (hepatomegaly), Biliary atresia |
Lungs and breathing | 3 | Respiratory distress, Total anomalous pulmonary venous return, Bilateral trilobed lung |
Bones and joints | 2 | Block vertebrae, Short long bone |
Pregnancy and birth | 1 | Congenital hip dislocation |
Arms and legs | 1 | Hypoplastic toenails |
Brain and nerves | 1 | Hydrocephalus |
Growth and development | 1 | Failure to thrive |
Age of onset: at birth.
ZIC3 function has not been fully characterized.
Heterotaxy, visceral, 1, X-linked is associated with mutations in the ZIC3 gene on chromosome X.
Genetic testing for ZIC3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 very common features, 25 common features.
No clinical trials have been registered for heterotaxy, visceral, 1, X-linked.
6 publications have been identified in PubMed for heterotaxy, visceral, 1, X-linked. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Ma W (2026). [PMID: 41783016](https://pubmed.ncbi.nlm.nih.gov/41783016/). *Frontiers in cardiovascular medicine*. [Review / Meta-Analysis]
Chen Z (2025). [PMID: 40552176](https://pubmed.ncbi.nlm.nih.gov/40552176/). *Frontiers in medicine*. [Case Report / Case Series]
Yi W (2025). [PMID: 40670315](https://pubmed.ncbi.nlm.nih.gov/40670315/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Xie XH (2025). [PMID: 40467998](https://pubmed.ncbi.nlm.nih.gov/40467998/). *Journal of human genetics*. [Epidemiology / Natural History]
Ahmad Rafie NN (2025). [PMID: 40789547](https://pubmed.ncbi.nlm.nih.gov/40789547/). *Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology*. [Basic Science / Preclinical]
Wells JR (2024). [PMID: 39275801](https://pubmed.ncbi.nlm.nih.gov/39275801/). *HGG advances*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
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