KEGG   DISEASE: HeterotaxyHelp
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
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00632  Heterotaxy
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q89  Other congenital malformations, not elsewhere classified
    H00632  Heterotaxy
BRITE hierarchy
Pathway
TGF-beta signaling pathway
Cytokine-cytokine receptor interaction
Gene
NODAL [HSA:4838] [KO:K04666]
ZIC3 [HSA:7547] [KO:K18487]
CFC1 [HSA:55997]
ACVR2B [HSA:93] [KO:K13596]
CCDC11 [HSA:220136]
GDF1 [HSA:2657] [KO:K05495]
MMP21 [HSA:118856] [KO:K08000]
PKD1L1 [HSA:168507] [KO:K04987]
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)
DOI:10.1002/ajmg.c.30228
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)
DOI:10.1093/hmg/7.10.1565
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)
DOI:10.1006/scdb.1997.0187
Reference
PMID:11471159 (description)
  Authors
Casey B
  Title
Genetics of human situs abnormalities.
  Journal
Am J Med Genet 101:356-8 (2001)
DOI:10.1002/ajmg.1220
Reference
  Authors
Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O
  Title
A human laterality disorder associated with recessive CCDC11 mutation.
  Journal
J Med Genet 49:386-90 (2012)
DOI:10.1136/jmedgenet-2011-100457
Reference
  Authors
Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R
  Title
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
  Journal
Hum Mol Genet 19:2747-53 (2010)
DOI:10.1093/hmg/ddq164
Reference
PMID:26429889 (gene)
  Authors
Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N
  Title
A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
  Journal
J Med Genet 52:840-7 (2015)
DOI:10.1136/jmedgenet-2015-103336
Reference
PMID:27616478 (gene)
  Authors
Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y
  Title
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
  Journal
Am J Hum Genet 99:886-893 (2016)
DOI:10.1016/j.ajhg.2016.07.011

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