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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-11-2016
Symbol HTX7
Location 10q26.2
Name heterotaxy, visceral, 7
Corresponding gene MMP21
Main clinical features
  • developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs
  • complex cardiac anomalies, variably including dextrocardia, transposition of the great arteries, atrial and/or ventricular septal defects, abnormal vessel draining, interruption of the vena cava drainage, and anomalous pulmonary venous return, associated to extracardiac laterality defects were also common but variable, and included situs inversus totalis, situs ambiguus, pulmonary isomerism, intestinal malrotation, midline liver, and polysplenia
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    digestive tract/gastrointestinal
    Type disease