KEGG   DISEASE: H00632Help
Entry
H00632                      Disease                                

Name
Heterotaxy;
Situs ambiguus
Description
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis.
Category
Developmental disorder
BRITE hierarchy
Pathway
TGF-beta signaling pathway
Cytokine-cytokine receptor interaction
Gene
NODAL [HSA:4838] [KO:K04666]
ZIC3 [HSA:7547] [KO:K09224]
CFC1 [HSA:55997]
ACVR2B [HSA:93] [KO:K13596]
Other DBs
Reference
PMID:19876930 (gene)
  Authors
Sutherland MJ, Ware SM
  Title
Disorders of left-right asymmetry: heterotaxy and situs inversus.
  Journal
Am J Med Genet C Semin Med Genet 151C:307-17 (2009)
Reference
PMID:9735377 (description)
  Authors
Casey B
  Title
Two rights make a wrong: human left-right malformations.
  Journal
Hum Mol Genet 7:1565-71 (1998)
Reference
PMID:9572118 (description)
  Authors
Kosaki K, Casey B
  Title
Genetics of human left-right axis malformations.
  Journal
Semin Cell Dev Biol 9:89-99 (1998)
Reference
PMID:11471159 (description)
  Authors
Casey B
  Title
Genetics of human situs abnormalities.
  Journal
Am J Med Genet 101:356-8 (2001)

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