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  3. X-linked visceral heterotaxy 1
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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


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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.[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


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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.

Showing of 27 |
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
Showing of 27 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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


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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


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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


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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


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Bouvagnet P. Heterotaxia. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=450. Accessed 11/9/2011.
  2. ZIC3. Genetics Home Reference. November 2011; http://ghr.nlm.nih.gov/gene/ZIC3. Accessed 11/9/2011.
Do you know of a review article? We want to hear from you.
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