X-linked visceral heterotaxy 1

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Other Names:

HTX1; Laterality, X-linked; Situs inversus, complex cardiac defects, and splenic defects, X-linked; HTX1; Laterality, X-linked; Situs inversus, complex cardiac defects, and splenic defects, X-linked; Heterotaxy, visceral, 1, X-linked; Heterotaxy, visceral, X-linked See More

This disease is grouped under:

Heterotaxy

Summary Summary

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.^[1] 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).^[2] Affected individuals can 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.^[1]

Last updated: 11/9/2011

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Abdominal situs inversus		0003363
Anal atresia	Absent anus	0002023
Asplenia	Absent spleen	0001746
Double outlet right ventricle		0001719
Horseshoe kidney	Horseshoe kidneys	0000085
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Omphalocele		0001539
Patent ductus arteriosus		0001643
Single ventricle		0001750
Transposition of the great arteries		0001669
Percent of people who have these symptoms is not available through HPO
Absence of the sacrum		0010305
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Biliary atresia		0005912
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Common atrium		0011565
Cyanosis	Blue discoloration of the skin	0000961
Dextrocardia	Heart tip and four chambers point towards right side of body	0001651
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Mitral atresia		0011560
Polysplenia	Multiple small spleens	0001748
Posteriorly placed anus		0012890
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
X-linked recessive inheritance		0001419

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Last updated: 2/1/2021

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to X-linked visceral heterotaxy 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

Mended Hearts
Merry Acres Executive Building
1500 Dawson Road
Albany, GA 31707
Toll-free: 1-888-432-7899
Telephone: +1-229-518-2680
E-mail: info@mendedhearts.org
Website: https://mendedhearts.org/
The Children's Heart Foundation
5 Revere Drive
One Northbrook Place
Suite 200
Northbrook, IL 60062-1500
Telephone: +1-847-634-6474
E-mail: info@childrensheartfoundation.org
Website: https://www.childrensheartfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on X-linked visceral heterotaxy 1. This website is maintained by the National Library of Medicine.

In-Depth Information

Medscape Reference has information on situs inversus. You may need to register to view this medical reference, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked visceral heterotaxy 1. Click on the link to view a sample search on this topic.

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