Heterotaxy, visceral, X-linked

Common Name(s)

Heterotaxy, visceral, X-linked, X-linked visceral heterotaxy 1

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 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Heterotaxy, visceral, X-linked" for support, advocacy or research.

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The Heterotaxy Network

The Heterotaxy Network was founded in 2010 to promote education, research, and support to families afflicted by Heterotaxy all around the globe.

Last Updated: 22 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Heterotaxy, visceral, X-linked" for support, advocacy or research.

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The Heterotaxy Network

The Heterotaxy Network was founded in 2010 to promote education, research, and support to families afflicted by Heterotaxy all around the globe.

http://www.theheterotaxynetwork.org

Last Updated: 22 Jan 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Heterotaxy, visceral, X-linked" returned 0 free, full-text research articles on human participants.

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Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Heterotaxy, visceral, X-linked" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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