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Mutations in this gene have been shown to cause heterotaxy.
The cause of heterotaxy is unknown.
It is frequently associated with heterotaxy syndrome.
Genetic associations of heterotaxy include:
Congenital asplenia (rare) may be due to genetic disorders, (i.e. heterotaxy syndrome).
This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes.
The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation.
In other rare cases, in a condition known as situs ambiguus or heterotaxy, situs cannot be determined.
Asplenia with cardiovascular anomalies or Ivemark syndrome, also known as Right Atrial Isomerism, is an example of a heterotaxy syndrome.
Complete reversal of all organs is known as situs inversus, while reversal of some organs but not others is called situs ambiguus or heterotaxy.
MacKinzie Kline (born March 30, 1992 in La Jolla, California) is an American female golfer who suffers from a heart defect known as heterotaxy syndrome as a result of being born with only one ventricle.
Associated conditions include heterotaxy syndrome, intestinal malrotation, situs inversus, biliary atresia, and the range of congenital cardiac malformations most commonly dextrocardia, atrial situs ambiguus, ventricular inversion, and VA concordance with left posterior aorta.
Situs ambiguus or situs ambiguous (the former spelling is more correct etymologically, but the latter spelling is very common), also known as heterotaxy or heterotaxia, is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen.
This is not the case with some PCD-related genetic mutations: at least 6% of the PCD population have a condition called situs ambiguus or heterotaxy where organ placement or development is neither typical (situs solitus) nor totally reversed (situs inversus totalis) but is a hybrid of the two.
Complete reversal of all organs is known as situs inversus, while reversal of some organs but not others is called situs ambiguus or heterotaxy.
Associated conditions include heterotaxy syndrome, intestinal malrotation, situs inversus, biliary atresia, and the range of congenital cardiac malformations most commonly dextrocardia, atrial situs ambiguus, ventricular inversion, and VA concordance with left posterior aorta.
Splenic abnormalities such as polysplenia, asplenia and complex congenital heart defects are more common in individuals with situs ambiguus and PCD, as they are in all individuals with situs ambiguus.
This is not the case with some PCD-related genetic mutations: at least 6% of the PCD population have a condition called situs ambiguus or heterotaxy where organ placement or development is neither typical (situs solitus) nor totally reversed (situs inversus totalis) but is a hybrid of the two.
Słownik medyczny