Heterotaxy, Visceral, 7, Autosomal

External Ids:

OMIM 57 616749 MedGen 42 C4225217 CN235018

MeSH 44 D059446 SNOMED-CT via HPO 69 258211005 253366007 405752007 70142008 448743001 204296002 26146002 14821001 24614000 27317008 43876007 253789002 29980002 48641006 10930001 204443008 54682008 111323005 39905002 15459006 23063005 253276007 218728005 111321007 244229003 more

UniProtKB/Swiss-Prot : ⁷⁵ Heterotaxy, visceral, 7, autosomal: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive.

MalaCards based summary : Heterotaxy, Visceral, 7, Autosomal, is also known as htx7. An important gene associated with Heterotaxy, Visceral, 7, Autosomal is MMP21 (Matrix Metallopeptidase 21). Affiliated tissues include heart, liver and lung, and related phenotypes are atrial septal defect and intestinal malrotation

OMIM : ⁵⁷ Autosomal visceral heterotaxy-7 is an autosomal recessive 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. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (616749)

Clinical features from OMIM:

616749

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 7, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 7, Autosomal.