X-linked visceral heterotaxy 1
Other Names for this Disease
- Heterotaxy syndrome
- Heterotaxy, visceral, 1, X-linked
- Heterotaxy, visceral, X-linked
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.
- 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.