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Heterotaxy, visceral, 1, X-linked

MONDO:0010607

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 individualscan 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.

Also known as: ZIC3 visceral heterotaxy, congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive, heterotaxy, visceral, 1, X-linked, heterotaxy, visceral, 1, X-linked, X-linked recessive, visceral heterotaxy caused by mutation in ZIC3, HTX1, X-linked visceral heterotaxy 1, congenital heart defects, multiple types, 1, X-linked

138 clinical trials for this condition and its sub-types.

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Broader categories

Cardiovascular disorder (969) Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Congenital anomaly of cardiovascular system (5) Congenital heart malformation (3) Disease of genetic or genomic mechanism (2) Visceral heterotaxy (1) Disease by body system or component (0)
Trials to join now! 56 Not yet recruiting 27 Not yet finished but already full! 17 Completed 36 Terminated 2
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