HTX7
MCID: HTR018
MIFTS: 22
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Heterotaxy, Visceral, 7, Autosomal (HTX7)
Categories:
Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Heterotaxy, Visceral, 7, Autosomal:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
some patients may be asymptomatic spectrum of laterality defects HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Cardiovascular diseases |
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) |
Diseases in the Visceral Heterotaxy family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616749Human phenotypes related to Heterotaxy, Visceral, 7, Autosomal:32 (show all 18)
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MalaCards organs/tissues related to Heterotaxy, Visceral, 7, Autosomal:41
Heart,
Liver,
Lung,
Spleen
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UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 7, Autosomal:75
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Search
GEO
for disease gene expression data for Heterotaxy, Visceral, 7, Autosomal.
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