X-linked visceral heterotaxy 1
Other Names for this Disease
- Heterotaxy syndrome
- Heterotaxy, visceral, 1, X-linked
- Heterotaxy, visceral, X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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 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.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
Last updated: 11/9/2011
- Bouvagnet P. Heterotaxia. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=450. Accessed 11/9/2011.
- ZIC3. Genetics Home Reference. November 2011; http://ghr.nlm.nih.gov/gene/ZIC3. Accessed 11/9/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about X-linked visceral heterotaxy 1. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on X-linked visceral heterotaxy 1. This website is maintained by the National Library of Medicine.
- Medscape Reference has information on situs inversus. You may need to register to view this medical reference, but registration is free.
- 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.