General Information of Disease (ID: DIS4MD97)

Disease Name Heterotaxy, visceral, 6, autosomal
Synonyms HTX6; heterotaxy, visceral, 6, autosomal recessive; heterotaxy, visceral, 6, autosomal
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DIS4MD97: Heterotaxy, visceral, 6, autosomal
Disease Identifiers
MONDO ID
MONDO_0013887
UMLS CUI
C3553676
OMIM ID
614779
MedGen ID
766590

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVR2B TTLFRKS Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFAP53 OTI76XGK Strong Autosomal recessive [2]
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References

1 The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse.Genes Dev. 1997 Jul 15;11(14):1812-26. doi: 10.1101/gad.11.14.1812.
2 A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet. 2012 Jun;49(6):386-90. doi: 10.1136/jmedgenet-2011-100457. Epub 2012 May 10.